Digital Commons@Wayne State University

Index to Volume

Human Biology Editors — Thu, 13 Jun 2013 11:15:27 PDT

Book Reviews

Human Biology Editors — Thu, 13 Jun 2013 11:15:26 PDT

The Coming Plague: Newly Emerging Diseases in a World Out of Balance (Ed. by Laurie Garrett) (Reviewed by Janet W. McGrath, Case Western Reserve University)

Women Changing Science: Voices from a Field in Transition (Ed. by Mary Morse) (Reviewed by Diana K. Crowell Comuzzie, Schreiner College)

Brief Communication: CTG Repeat Number in the Nonaffected Allele of Myotonic Dystrophy Patients Is Not Critical for Disease Expression

M. Cipollaro et al. — Thu, 13 Jun 2013 11:15:25 PDT

To investigate whether unusual allele segregation might explain the dominant negative effect of the expanded allele for myotonic dystrophy on myotonin protein kinase mRNA metabolism, which is suggested to cause the disease, we determined the number of CTG repeats at the DM locus in the nonaffected alleles of 64 DM (dystrophia myotonia) patients. The relative distribution was then compared with the distributions obtained from alleles of the normal parents and normal siblings of DM patients. Comparison was also made with the allele distribution of normal subjects from the same geographic area. It appears that the CTG repeat number of the nonaffected allele in DM patients is not critical for the expression of the disease.

Is Length of Life Predictable?

G.M. Tallis et al. — Thu, 13 Jun 2013 11:15:24 PDT

A random sample of death records of adult males from the period 1967 to 1970 was chosen from the South Australian Registry of Births, Deaths, and Marriages. The natural parents of these individuals were identified by cross-referencing to birth certificates, and an extensive search was made of the death records for these parents. In this manner random families were selected for which, where possible, the cause of death and length of life of each family member were determined. Here, we analyze the association between sons and their parents in length of life and report the statistically useful correlations that were found. These correlations enable the calculation of a life table for a male conditional on his current age and the lifetimes of his parents. Comparisons are made with the uninformed population life table based solely on sex and year of birth.

Pattern and Process of Growth of the Abnormal Human Fetus

Richard J. Sherwood et al. — Thu, 13 Jun 2013 11:15:23 PDT

Identifying patterns of fetal growth alteration benefits both the clinician and the researcher. Twenty-four measurements in three variable sets (anthropometric measures, organ weights, and long-bone measures from radiographs) were taken on fetuses both with and without pathological conditions that are suspected to result in growth alteration. In addition, radiographs of each case were examined for the presence or absence of ossification centers. Based on least-squares regressions of the normal group, we calculated standardized residuals for the affected group to identify patterns of growth alteration. A large sample of fetuses between 15 and 42 weeks of gestational age with a variety of pathological conditions is described and evaluated for growth alterations. Symmetric and asymmetric growth alteration was detected in a small part of the sample and was predominantly isolated to fetuses in the late third trimester. Although patterns of growth alteration have been suggested as a means for noninvasive diagnoses of syndromes (such as trisomy 21), no consistent patterns are discernible in the current group. The sample provides a unique opportunity to evaluate fetal growth in terms of the interaction between genetic and environmental influences.

Ontogenetic Changes in Genetic Regulation of Fetal Morphometries in Baboons (Papio hamadryas subspp.)

C.E. Jaquish et al. — Thu, 13 Jun 2013 11:15:22 PDT

It is known that different genes are expressed during ontogeny; however, it is unclear how variation in that expression is associated with changes in growth patterns. The objective of this study is to assess how genetic variation in fetal morphology changes with ontogeny in baboons. Longitudinal measures of the head and femur (60 to 180 days gestation) were available for 892 pregnancies. We used a genetic model that allowed both the genetic and environmental variances (cr% and cr|) to change with age and estimated genetic and environmental correlations (pG and pE) between measurements at different ages. The results indicate a significant increase in the genetic variance for biparietal diameter and femur length but not for head circumference and fronto-occipital diameter. The pG estimates for all measures decreased as the age between measures increased from 0 to 120 days, indicating that different groups of genes are expressed early in gestation and late in gestation. The pE estimates dropped rapidly from 1 to 0 for all measures, indicating temporally localized environmental influences on fetal growth. Thus fetal morphometries are significantly heritable and those genes that influence them show age-specific expression during ontogeny.

Application of HLA Class II Polymorphism Analysis to the Study of the Population Structure of the Island of Krk, Croatia

Irena Martinović et al. — Thu, 13 Jun 2013 11:15:21 PDT

The population structure of the northern Adriatic island of Krk, Croatia, was studied using PCR methodology and nonradioactive oligonucleotide hybridization for the analysis of HLA-DRB1, DRB3, DRB4, DRB5, DQA1, and DQB1 polymorphisms. Allele frequencies, genetic kinship (R), and genetic distances (E2) were computed, and correlations between distance (genetic, linguistic, geographic) and kinship (migration) matrices were examined. The results, reflecting past (micro-) evolutionary processes, indicate that ethnohistorical and sociocultural events rather than geographic distances are the primary determinants of today’s population structure of the island.

HLA Class I and Class II Alleles and Haplotypes in Mexican Mestizos Established from Serological Typing of 50 Families

Claudia De Leo et al. — Thu, 13 Jun 2013 11:15:20 PDT

We describe new information on the frequency and association of class II antigens (HLA-DR and HLA-DQ) of the major histocompatibility complex (MHC) in Mexicans. The study includes HLA-B typing and its association with the HLA-DR antigens determined in 50 families, which included 100 individuals. This family study allowed the establishment of the precise composition of the 200 HLA haplotypes, which cannot be obtained from unrelated individuals. The predominant antigens in decreasing order of frequency were B35, B39, and B61 at the B locus; DR4, DR5, and DR8 at the DR locus; and DQ3 at the DQ locus. The most common HLA-B,HLA-DR haplotype (considering broad specificities) was B16,DR4, with a frequency of 8.0%. Five HLA-B,HLA-DR haplotypes showed significant delta values (observed vs. expected frequencies) after correcting for the number of comparisons. On the other hand, the most common HLA-DR,HLA-DQ haplotypes were DR4,DQ3 and DR5,DQ3 with a frequency higher than 10%. Ten of the 17 HLADR, HLA-DQ haplotypes had significant postcorrection delta values.

Relationship of Two Apolipoprotein B Polymorphisms with Serum Lipoprotein and Lipid Levels in African Blacks

Jennifer L. Anderson et al. — Thu, 13 Jun 2013 11:15:19 PDT

Two DNA polymorphisms, insertion/deletion (insldel) and Xbal, of the apolipoprotein B (APOB) gene and their relationships with serum lipoprotein and lipid levels were examined in two Nigerian populations from Benin (/? = 828) and Sokoto (n = 394). Allele frequencies for both polymorphisms were comparable between the two populations, and genotype frequencies conformed to Hardy-Weinberg equilibrium expectations. Because lipid profiles are affected by many known sex differences, males and females were analyzed separately. Analysis of variance was performed to test equality of means of quantitative traits across genotypes; the dependent variables were first adjusted by stepwise linear regression for environmental covariates in both populations. Plasma apoB and HDL2 cholesterol levels varied significantly between insldel genotypes in Benin males (p = 0.05) and Sokoto males (p = 0.02), respectively. No significant variation between Xbal genotypes was observed for any lipid trait in either population. Combining the insldel and Xfral polymorphisms to form haplotypes revealed significant linkage disequilibrium in both the Benin (p < 0.0001) and Sokoto (p < 0.001) populations. Analysis of the two-site haplotype showed a significant effect on serum lipoprotein (a) levels in Benin females (p < 0.04) and on HDL2 cholesterol among Sokoto males (p = 0.01). The haplotype explained 4% of the adjusted phenotypic variation in lipoprotein (a) levels in Benin females and 8.5% of the adjusted phenotypic variation in HDL2 cholesterol levels in Sokoto males. These data indicate that the insldel and Xbal polymorphisms in the APOB gene affect interindividual variation in serum lipoprotein and lipid levels in African populations.

Mutation Rate and Excess African Heterozygosity

John H. Relethford — Thu, 13 Jun 2013 11:15:19 PDT

Global studies of within-group genetic variation have revealed a tendency for some traits, but not all, to show higher heterozygosity in sub-Saharan African populations. Although excess African diversity has been interpreted as reflecting a greater “age” of sub-Saharan African populations, more recent research has shown that this excess is more likely a consequence of a larger African long-term effective population size. The observation that certain traits, particularly classic genetic markers and RFLPs, do not show this pattern has been interpreted as ascertainment bias. Here, I examine another possible factor: that excess African heterozygosity is in part a function of mutation rate. Simple equilibrium and nonequilibrium models of absolute excess heterozygosity are examined. The results indicate that there is little excess African heterozygosity for traits with low mutation rates and greater excess heterozygosity for traits with moderate to high aggregate mutation rates. Observed data are consistent with these models. Also, depending on population size and time depth, traits with high levels of mutation might show less excess heterozygosity than those with moderate to high mutation rates. Another measure of diversity, mean sequence divergence, shows an increase in excess diversity for traits with high mutation rates.

VNTR Polymorphism in the Buenos Aires, Argentina, Metropolitan Population

Andrea Sala et al. — Thu, 13 Jun 2013 11:15:18 PDT

VNTR loci provide a wealth of information for human genetic research, ranging from gene mapping to paternity testing and forensic identification. In this study we report the construction, validation, and analysis of the first local genetic database for VNTR markers for Argentina. A sample of the metropolitan population of Buenos Aires was typed by means of six VNTR systems. Allele frequencies and expected heterozygosity were calculated. The sample set was further tested for departures from Hardy-Weinberg equilibrium and power of exclusion. Allele frequency distributions are compatible with previously reported data on Caucasian populations, and no departures from Hardy-Weinberg equilibrium were detected.

Distribution of Sequence Variation in the mtDNA Control Region of Native North Americans

Joseph G. Lorenz et al. — Thu, 13 Jun 2013 11:15:16 PDT

The distributions of mtDNA diversity within and/or among North American haplogroups, language groups, and tribes were used to characterize the process of tribalization that followed the colonization of the New World. Approximately 400 bp from the mtDNA control region of 1 Na-Dene and 33 Amerind individuals representing a wide variety of languages and geographic origins were sequenced. With the inclusion of data from previous studies, 225 native North American (284 bp) sequences representing 85 distinct mtDNA lineages were analyzed. Mean pairwise sequence differences between (and within) tribes and language groups were primarily due to differences in the distribution of three of the four major haplogroups that evolved before settlement of the New World. Pairwise sequence differences within each of these three haplogroups were more similar than previous studies based on restriction enzyme analysis have indicated. The mean of pairwise sequence differences between Amerind members of haplogroup A, the most common of the four haplogroups in North America, was only slightly higher than that for the Eskimo, providing no evidence of separate ancestry, but was about two-thirds higher than that for the Na-Dene. However, analysis of pairwise sequence divergence between only tribal-specific lineages, unweighted for sample size, suggests that random evolutionary processes have reduced sequence diversity within the Na-Dene and that members of all three language groups possess approximately equally diverse mtDNA lineages. Comparisons of diversity within and between specific ethnic groups with the largest sample size were also consistent with this outcome. These data are not consistent with the hypothesis that the New World was settled by more than a single migration. Because lineages tended not to cluster by tribe and because lineage sharing among linguistically unrelated groups was restricted to geographically proximate groups, the tribalization process probably did not occur soon after settlement of the New World, and/or considerable admixture has occurred among daughter populations.

Book Reviews

Human Biology Editors — Thu, 13 Jun 2013 08:50:35 PDT

Variation in the Human Genome (Ed. by Derek Chadwick and Gail Cardew) (Reviewed by John H. Relethford, State University of New York College at Oneonta)

The Health Consequences o f “Modernization”: Evidence from Circumpolar Peoples (Ed. by Roy J. Shepard and Andris Rode) (Reviewed by Robert J. Meier, Indiana University)

Brief Communication: Census versus Sample Data in Isonymy Studies: Relationship at Short Distances

Gabriel W. Lasker — Thu, 13 Jun 2013 08:50:34 PDT

The degree of isonymy is greatly influenced by whether or not it includes the extent of isonymous relationship resulting from persons of the same surname living in the same residence. In a sample of 313 male citizens in one English village and 386 males in another village, isonymy within the same residence averaged 0.86. Total relationship by isonymy was 60% and 48% understated in samples of one individual of any surname at each residence in the two villages, such as would result from use of telephone directories as a source. In these villages isonymy between occupants of contiguous houses was also elevated. Only a small fraction of the total isonymy could be attributed to different residences on the same street, so this has little effect on the coefficient of relationship for the whole village or region. The larger the population, the less the bias from ignoring within-household relationships.

Isonymy Structure of Sucre and Táchira, Two Venezuelan States

Alvaro Rodríguez-Larralde et al. — Thu, 13 Jun 2013 08:50:33 PDT

The isonymy structure of two Venezuelan states, Sucre and Tachira, is described using the surnames of the Register of Electors updated in 1991. The frequency distribution of surnames pooled together by sex was obtained for the 57 counties of Sucre and the 52 counties of Tachira, based on total population sizes of 158,705 and 160,690 individuals respectively. The coefficient of consanguinity resulting from random isonymy ((/>„), Karlin and McGregor’s /?, (= v), and the proportion of the population included in surnames represented only once (estimator A) and in the seven most frequent surnames (estimator B) were calculated for each county. RST, a measure of microdifferentiation, was estimated for each state. The Euclidean distance between pairs of counties within states was calculated together with the corresponding geographic distances. The correlations between their logarithmic transformations were significant in both cases, indicating differentiation of surnames by distance. Dendrograms based on the Euclidean distance matrix were constructed. From them a first approximation of the effect of internal migration within states was obtained. Ninety-six percent of the coefficient of consanguinity resulting from random isonymy is determined by the proportion of the population included in the seven most frequent surnames, whereas between 72% and 88% of Karlin and McGregor’s nt for Sucre and Tachira, respectively, is determined by the proportion of population included in surnames represented only once. Surnames with generalized and with focal distribution were identified for both states, to be used as possible indicators of the geographic origin of their carriers. Our results indicate that Tachira’s counties, on average, tend to be more isolated than Sucre’s counties, as measured by RsT, estimator B, and u. Comparisons with the results obtained for other Venezuelan states and other non-Venezuelan populations are also given.

Inbreeding in Escazú, Costa Rica (1800-1840,1850-1899): Isonymy and Ecclesiastical Dispensations

L. Madrigal et al. — Thu, 13 Jun 2013 08:50:32 PDT

We investigate the inbreeding levels in Escazu, Costa Rica, during 1800-1840 and 1850-1899. Inbreeding was researched through analysis of ecclesiastical dispensations and by two isonymy methods (Crow and Mange 1965; Pinto-Cisternas et al. 1985). As expected, the dispensation inbreeding coefficients were lower than those obtained through isonymy. However, the three methods indicate that consanguinity increased in the community during the second part of the nineteenth century.

Nativity, Race, and Mortality: Favorable Impact of Birth outside the United States on Mortality in New York City

Jing Fang et al. — Thu, 13 Jun 2013 08:50:30 PDT

To determine the association of birthplace (US-born vs.foreign-born) with mortality among blacks and whites in New York City, we examined death records for 5 years from 1988 to 1992 and the 1990 census data. Mortality rates by race and birthplace were compared for all causes of death and for specific causes. Although overall death rates for blacks generally exceeded those for whites (1224.8 per 100,000 inhabitants vs. 721.4 for males and 593.7 vs. 393.1 for females), foreign-born blacks had death rates (664.6 for males and 350.2 for females) slightly lower than those for whites. The most striking variation among blacks was among those aged 25 to 64 years. US-born black males were three times as likely (1588.9 vs. 525.2) and US-born black females were more than 2.5 times as likely (673.5 vs. 263.4) to die as were foreign-born blacks. Among US-bom blacks AIDS, homicide, and cancer for males and AIDS, heart disease, and cancer for females were the most important determinants of excess deaths, defined as the difference between observed deaths and expected deaths; these causes of death account for about half of the excess deaths for each sex. Among whites natives generally had higher death rates than migrants, but less prominently and consistently so than for blacks. Excess mortality of blacks is largely explained by higher death rates of US-born compared with foreign-born Americans.

Legal Standards and the Significance of DNA Evidence

Richard Gomulkiewicz et al. — Thu, 13 Jun 2013 08:50:29 PDT

Most human biologists are aware of controversies regarding the use of DNA profiles in the courtroom. Much attention has been given to estimating the probability of obtaining matches between DNA samples from an innocent suspect and those from a crime scene, but considerably less attention has been given to the critical issue of determining the probability of guilt given a match. Using Bayes’ rule and simple algebra, we develop a measure of the strength of DNA evidence that indicates the amount of incriminating evidence needed in combination with DNA match evidence to meet a given conviction standard. Based on current standards and practices, we use this measure to demonstrate that (1) the amount of non-DNA evidence needed to convict, given a DNA match, generally is quite small, even if errors can occur in the processing of DNA evidence; (2) DNA match evidence alone is insufficient to convict, even for the lowest recognized conviction standards; (3) failure to match DNA evidence samples should be exculpatory unless laboratory proficiency is poor; and (4) if errors in handling evidentiary samples occur (even rarely) that tend to produce a false DNA match, then the legal significance of DNA evidence is remarkably insensitive to estimates of chance match probability.

Gene Frequency Clines Produced by Kin-Structured Founder Effects

Alan G. Fix — Thu, 13 Jun 2013 08:50:28 PDT

Two mechanisms are commonly invoked to explain geographic gradients in gene frequencies (clines): gene flow and natural selection. Thus gene frequency clines in Europe have been attributed to gene flow because expanding Neolithic farmers from the Near East spread and absorbed resident foragers, a process Cavalli-Sforza and his colleagues labeled demic diffusion. Alternatively, gradients in natural selection can produce the same genetic pattern. A third mechanism to explain European clines has recently been proposed by Barbujani et al. (1995). They found that European allele frequencies were consistent with distributions generated by a simple model of total replacement of foragers by expanding farmers. Clines were produced by repeated founder effects in colonizing farmer groups. Here, I present a simulation model using different population parameters to test the generality of the Barbujani model. Results of the simulation show that steep clines (measured by spatial autocorrelation statistics) can be produced by kin-structured founder effects. The implication of these findings is that several genetic mechanisms are consistent with the allele distributions in Europe. To discriminate among these alternatives, other information, such as better archeological and demographic characterization of interactions between farmers and foragers, is required. In any case, the mere presence of genetic clines does not necessarily validate the demic diffusion model.

Analysis of the (CAG)n Repeat at the IT15 Locus in a Population from Calabria (Southern Italy)

O. Leone et al. — Thu, 13 Jun 2013 08:50:23 PDT

The defect causing Huntington’s disease (HD) has recently been discovered as an expanded CAG trinucleotide repeat located at the 5' end of the IT 15 gene. This discovery allows the molecular diagnosis of HD by measuring the CAG repeat length. The normal and pathological repeat ranges in a population need to be established before a diagnostic test for HD can be performed. To determine the distribution of IT 15 alleles in a population from Calabria (southern Italy), we analyzed 102 normal subjects and 9 HD patients coming from a defined area of Calabria (province of Cosenza). Expanded alleles ranged from 44 to 76 repeats. Normal alleles varied from 8 to 27 repeats, which is one of the lowest values observed at the top of the normal range; the mean was significantly different from the value observed in six other populations. The allele distribution seemed to group mainly around the mode, and no intermediate alleles were present in our sample. These results suggest a particular stability of the CAG repeat at the IT 15 locus in the Calabrian group and confirm once again the peculiar genetic structure of this population.

Characterization of Mitochondrial DNA and Y-Chromosome Haplotypes in a Uruguayan Population of African Ancestry

Claudio M. Bravi et al. — Thu, 13 Jun 2013 08:50:21 PDT

We used a set of informative mtDNA and Y-chromosomespecific markers to determine the origin of maternal and paternal lineages in a sample of 41 Uruguayan black individuals. We found that 20 maternal lineages were African, 13 were Amerindian, and 5 were Caucasian. In three individuals we were unable to determine the ethnic origin of the mtDNA lineages. Of the 22 males analyzed we found 4 Y chromosomes of African origin, 5 of Caucasian origin, and 13 of undetermined ancestry. Our results suggest that mtDNA and Y-chromosome-specific DNA variants may be a useful tool in determining the level of mtDNA and Y chromosome ethnic introgression in a population of a given ethnic origin.

Genotype Associations among Seven Apolipoprotein B Polymorphisms in a Population of Orang Asti of Western Malaysia

B. Gajra et al. — Thu, 13 Jun 2013 08:50:20 PDT

Associations among seven apolipoprotein B (APOB) gene polymorphisms [C-T promoter site; Leu-Ala-Leu signal peptide (SP) insertion/deletion; AG C,G site at codon 71; AG A1,D site at codon 591; Xbal site at codon 2488; AG H,I site at codon 3611; and AG T,Z site at codon 4154] were investigated in 195 members of an Orang Asli (aborigine) population from western Malaysia. Frequencies of the rare alleles for all these polymorphisms turned out to be low when compared with European but not Asian populations. The AG H,I site was not polymorphic. The highly polymorphic sites are in linkage disequilibrium among themselves, as shown by their A values: SP 24,27 and AG C,G, 0.68; SP 24,27 and AG A1,D, 0.71; Xbal and AG C,G, 0.64; Xbal and AG A1,D, 0.57; SP 24,27 and Xbal, 0.48; and AG C,G and AG A1,D, 0.68. Ten unequivocal haplotypes on the basis of six sites (excluding the promoter polymorphism) were observed, and they represent 80% of the sample. The frequency of haplotype SP27,G,A1,X — ,I,T, defined by the common homozygotes at all the sites for the APOB gene was 0.7, compared with 0.22 in Europeans. The ancestral haplotype SP27,G,D,X — ,I,T was present at low frequency (0.01) in both the Orang Asli and Europeans. A cladogram constructed on the basis of haplotypes in the Orang Asli shows two different lines of evolution and that other haplotypes evolved by subsequent mutations on the ancestral haplotype.

Phylogenetic Analysis of the Evolution of Lactose Digestion in Adults

Clare Holden et al. — Thu, 13 Jun 2013 08:50:19 PDT

In most of the world’s population the ability to digest lactose declines sharply after infancy. High lactose digestion capacity in adults is common only in populations of European and circum-Mediterranean origin and is thought to be an evolutionary adaptation to millennia of drinking milk from domestic livestock. Milk can also be consumed in a processed form, such as cheese or soured milk, which has a reduced lactose content. Two other selective pressures for drinking fresh milk with a high lactose content have been proposed: promotion of calcium uptake in high-latitude populations prone to vitamin-D deficiency and maintainance of water and electrolytes in the body in highly arid environments. These three hypotheses are all supported by the geographic distribution of high lactose digestion capacity in adults. However, the relationships between environmental variables and adult lactose digestion capacity are highly confounded by the shared ancestry of many populations whose lactose digestion capacity has been tested. The three hypotheses for the evolution of high adult lactose digestion capacity are tested here using a comparative method of analysis that takes the problem of phylogenetic confounding into account. This analysis supports the hypothesis that high adult lactose digestion capacity is an adaptation to dairying but does not support the hypotheses that lactose digestion capacity is additionally selected for either at high latitudes or in highly arid environments. Furthermore, methods using maximum likelihood are used to show that the evolution of milking preceded the evolution of high lactose digestion.

Quantitative Genetic Analysis of Arterial Oxygen Saturation in Tibetan Highlanders

Cynthis M. Beall et al. — Thu, 13 Jun 2013 08:50:18 PDT

This study was designed to test the hypothesis that genetic differences inferred from biological kinship relationships among individuals contribute to individual variation in percentage of oxygen saturation of arterial hemoglobin (Sa02) in a high-altitude native population. Sa02 data were obtained by pulse oximetry from 354 nonpregnant, healthy Tibetan residents of Pen-Dri, two rural agropastoral villages at 3800-4065 m altitude in Lhasa Municipal District, Tibet Autonomous Region, China. Statistical analyses of these data from 46 pedigrees tested the hypothesis of a significant genetic contribution to Sa02 variation. The average Sa0z was 89.4 ± 0.2%, with a range of 76-97%. Additive genetic effects account for 44% of the interindividual phenotypic variation in Sa02 in the sample. Complex segregation analysis and variance decomposition analysis determined that 21% of the total phenotypic variation could be explained by a major gene influencing Sa0r Homozygotes for the low-Sa02 allele have a mean Sa0z of 83.6%, whereas heterozygotes and homozygotes for the high-Sa02 allele have means of 87.6% and 88.3%, respectively. This confirms findings in another Tibetan sample and extends the known geographic distribution of the major gene. These results suggest the hypothesis that individuals with the dominant allele for higher Sa0z have a selective advantage in their high-altitude hypoxic environment.

Book Reviews

Human Biology Editors — Thu, 13 Jun 2013 08:35:34 PDT

Human Biodiversity: Genes, Races, and History (Ed. by Jonathan Marks) (Reviewed by John H. Relethford, State University of New York College at Oneonta)

The Genetics of Alcoholism (Ed. by Henri Begleiter and Benjamin Kissin) (Reviewed by Laura Almasy, Southwest Foundation for Biomedical Research)

Breif Communication: Genetic Polymorphisms of Orosomucoid ORM1 and ORM2 in Egyptians, Sudanese, and Qataris: Occurance of Two New Alleles

I.M. Sebetan et al. — Thu, 13 Jun 2013 08:35:33 PDT

Isoelectric focusing was used to investigate the genetic variants of the human plasma orosomucoid ORM1 and ORM2 gene loci in samples of Egyptians, Sudanese, and Qataris. The study populations were classified into 28 ORM phenotypes determined by 10 ORM1 and 9 ORM2 alleles that included 2 new alleles, designated ORMl*B13 and ORM2*H21. Family studies of these new alleles are in accordance with codominant autosomal inheritance. A new interpretation for two previously reported alleles, ORM1 *C6 and ORM2 *H17, is also presented.

Population-Based, Genetically Informative Sample for Studies of Physical Frailty and Aging: Black Elderly Twin Study

Toni P. Miles — Thu, 13 Jun 2013 08:35:32 PDT

In this article I describe efforts to build a genetically informative, population-based sample of black twins to study physical frailty and aging in the United States. This project involves the use of governmental registries combined with sampling techniques developed to overcome limitations in the registry data. Two analytical approaches to measures of disability are included to illustrate the types of questions that can be addressed with this sample. These results suggest that physical disability in late life has both genetic and environmental determinants. Only with a genetically informative sample can evidence be collected indicating that frailty may be driven by fixed processes (i.e., disability resulting from activation of senescence genes), fluid processes (i.e., disability resulting from changes in the features of the environment), or a combination of both.

Taste Sensitivity to PTC and Thyroid Function (FT4 and TSH) in High- and Low-Altitude Kirghiz Populations in the Pamir

Florenzo Facchini et al. — Thu, 13 Jun 2013 08:35:30 PDT

PTC taste sensitivity distribution, determined using the Harris and Kalmus method, and analysis of thyroid activity using FT4 and TSH hormone assays were studied in a sample of 108 high-altitude subjects (3200 m) and in 90 lowlanders (900 m) from two different regions of Kirghizstan (Central Asia). All subjects were healthy Kirghiz males. In agreement with other available data on Kirghiz populations, a higher nontaster frequency was found in the high-altitude subjects. Furthermore, the results of our study indicate no association between thyroid function, PTC sensitivity, and age in both samples. No difference in thyroid function indicators was noted between highlanders and lowlanders.

Association of Retinol Binding Protein in Multiple-Case Families with Insulin-Dependent Diabetes

D. Krill et al. — Thu, 13 Jun 2013 08:35:29 PDT

We performed a family study to investigate the heritability of reduced serum retinol levels observed in type 1 diabetes cases. Diet and serum factors, including retinol, total carotene, malondialdehyde, and retinol binding protein levels, were measured in 11 multiple-case families. The mean serum retinol level of the diabetics (46 ug/dl) was significantly less than the mean serum retinol level of the nondiabetics (60.9 ug/dl). The level of retinol binding protein was also significantly lower in diabetics (6.2 mg/dl) than in nondiabetics (7.6 mg/dl). The serum values of retinol binding protein were closely related within families, including both diabetic and nondiabetic family members. A characteristic shared between diabetics and one-third of their family members was a low ratio of serum retinol to total carotene, suggesting a low conversion of dietary carotene into retinol. Analysis of food frequency reports showed no difference between dietary retinol or total carotene level in diabetics or their relatives. This study offers evidence that heritability and the reduced conversion of carotene may play a role in the level of serum retinol in type 1 diabetes cases.

Regional Distribution of Cystic Fibrosis-Linked DNA Haplotypes in Brazil: Multicenter Study

Salmo Raskin et al. — Thu, 13 Jun 2013 08:35:28 PDT

The restriction fragment length polymorphism (RFLP) haplotypes of cystic fibrosis (CF) alleles vary between populations. To determine the distribution of two RFLPs (XV-2C and KM-19) that are tightly linked to the CF locus, we analyzed a white sample from five different states of Brazil. The haplotypes of 314 CF- and 237 non-CFbearing chromosomes were uniformly distributed over the five states. The XV-2C allele and haplotype frequencies and the degree of linkage disequilibrium were determined. These were similar to values previously reported in southern European countries but different from results reported for northern and central Europe and North America. In contrast, although KM-19 allele frequencies differed between Brazilian states and European and North American countries, these frequencies were similar to values reported in black Americans. A significant proportion of Brazilian CFbearing chromosomes had less common haplotypes, suggesting a heterogeneous distribution of CF gene mutations among Brazilians. Further studies are needed to identify the mutations affecting the Brazilian CF patients with various haplotypes.

Sociobiology and HLA Genetic Polymorphism in Hill Tribes, the Irula of the Nilgiri Hills and the malayali of the Shevroy Hills, South India

R.M. Pitchappan et al. — Thu, 13 Jun 2013 08:35:26 PDT

Two endogamous tribes of Tamil Nadu, South India, the Irula of the Nilgiri hills and the Malayali of the Shevroy hills, were studied for their sociobiology and HLA polymorphism. For sociobiological studies 166 marriages in the Irula and 368 marriages in the Malayali were recorded. The number and spatial distribution of patrilineal clans and their marriageable range (number of clans from which the brides came) were studied. Eight clans in the Irula and 16 clans in the Malayali were identified. Of these the Kuppar of the Irula and the Malayan of Malayali were the largest clans, and both of them had the greatest marriageable range. The numerical strength and the resultant spatial distribution correlated well with the marriageable range. HLA-A, B, and DR polymorphism was studied on 191 Irula and 42 Malayali following standard procedures. HLA typing revealed high frequencies (>10%) of alleles HLA-A2, A9, A l l , B17, B35, B40, DR2, and DR7 in both tribes, but the Irula had elevated HLA-A10, B8, and DR8 frequencies and the Malayali had elevated HLA-A31, B7, DR4, and DR5 frequencies. Two-locus haplotypes A10-B8 and A2-B5 were identified in both tribes, but A11-B40 and A2-B53 were present only in the Irula and A33-B44 and B15-DR6 were present only in the Malayali. The sociobiology of the Irula was correlated to the HLA genetic profile. The Irula sample was stratified based on clan and HLA data; The Kuppar clan was closer to the Kalkatti, the second largest clan, than to the Pungar and the Sambar clans. Thus the numerical strength and spatial distribution of various exogamous clans, presumably a result of migration during different periods of history, is reflected in the marriageable range and thus in the genetic distance. In studying HLA or any other genetic polymorphism of an endogamous tribe or caste, one needs to consider the social structure, spatial distribution, and marriageable range.

Genetic Study of African Populations: Polymorphisms of the Plasma Proteins TF, PI, F13B, and AHSG in Populations of Namibia and Mozambique

Heidi Bieber et al. — Thu, 13 Jun 2013 08:35:25 PDT

Genetic variations of four highly polymorphic serum proteins, TF, PI, F13B, and AHSG, were tested to distinguish one black African and one Khoisan population of southwest Africa. The results show that indeed the systems TF, PI, and AHSG are of high value for anthropological genetics: The allele frequencies for these systems enable clear identification of and distinction between black African and Khoisan populations. The F13B locus, on the other hand, reveals for both the black African and the Khoisan opulations specific and unique African variants: a high frequency of F13B*2 and the lowest frequency of F13B*3 so far worldwide. The new data are compared with results for TF and PI in another black African population of Mozambique, which Rodewald et al. (1988) had studied previously. The dendrogram, based on genetic distance data D and average linkage cluster analysis, shows minimal distance between both black African populations of Namibia and Mozambique and marked distance between those and the Khoisan population of Namibia.

Characterization of Four Short Tandem Repeat Loci (THO1, VWA31/A, CD4, and TP53) in Norther Portugal

Leonor Gusmão et al. — Thu, 13 Jun 2013 08:35:24 PDT

Allele and genotype frequencies for two tetrameric and two pentameric short tandem repeat (STR) loci (THOl, VWA31/A, CD4, and TP53) were determined in a population sample from northern Portugal. Genotyping of PCR amplification products was done using polyacrylamide gel electrophoresis followed by silver staining; heteroduplex analysis was performed to distinguish THOl genotypes involving allele 10 and the nonconsensus allele 9.3. For all loci allele frequencies fitted the distribution patterns generally observed in European populations. The observed genotype distributions do not deviate significantly from Hardy-Weinberg expectations, although for VWA31/A a significant excess of heterozygotes involving allele 17 was found. Mother-child pair analyses confirmed the regular Mendelian pattern of inheritance. Because the information content of these systems is high and because their genotyping is technically reliable and simple, CD4, THOl, VWA31/A, and TP53 are appropriate genetic systems for anthropological genetics.

Correlations of Quantitative Chromosomal Heteromorphisms and Classic Genetic Markers to Demogeographic Data in Garfagna Valley (Tuscany Italy)

Giorgio Paoli et al. — Thu, 13 Jun 2013 08:35:23 PDT

The genetic structure and interrelationships of six populations of the Garfagnana valley (Tuscany, Italy) were examined using chromosomal heteromorphisms concurrently with blood group system, red cell isozyme, and serum protein polymorphisms, secretor status, and surname frequency data. We aimed to evaluate the relationship of cytogenetic polymorphisms to more classical sources of gene frequency data in a population with a well-known demographic scenario. The R matrix technique (Harpending and Jenkins 1973) was used to estimate kinship coefficients, and the Harpending-Ward model (1982) and its extensions for quantitative traits (Relethford and Blangero 1990) were used to detect differential systematic pressure among population subdivisions. Mantel statistics were used to assess the significance of the correlations between cytogenetic, genetic, isonymy, geographic, and migration matrices. The analyses consistently gave similar results for the DAJDAPI cytogenetic heteromorphism and most gene frequency data. Both sets of results depend on migration patterns and on geographic distance among population subdivisions. However, C cytogenetic heteromorphism and some separately analyzed genetic markers did not fit the demogeographic pattern. Overall, it appears that data from different levels of the genetic hierarchy (namely, DNA regions encoding for classical biochemical markers and the noncoding highly variable cytogenetic bands of heterochromatin) can be treated and compared using the same analytical tools.

Factor IX Gene Haplotypes in Amerindians

Rendrik F. Franco et al. — Thu, 13 Jun 2013 08:35:20 PDT

We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampf, Wayana-Apalaf, Kayapo, Arara, and Yanomami. Eight polymorphisms linked to the factor IX gene were investigated: MseI (at 5', nt —698), BamHI (at 5', nt —561), DdeI (intron 1), BamHI (intron 2), XmnI (intron 3), Taql (intron 4), Mspl (intron 4), and Hhal (at 3', ~ 8 kb). The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arara) to four (Wayampf) haplotypes being found per tribe. These findings indicate a significant heterogeneity among the Indian tribes and contrast with the homogeneous distribution of the /?-globin gene cluster haplotypes but agree with our recent findings on the distribution of a-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies.

Book Reviews

Human Biology Editors — Thu, 13 Jun 2013 06:25:50 PDT

Breif Communication: Genetic Polymorphisms of Orosomucoid ORM1 and ORM2 in Egyptians, Sudanese, and Qataris: Occurance of Two New Alleles

I.M. Sebetan et al. — Thu, 13 Jun 2013 06:25:49 PDT

Population-Based, Genetically Informative Sample for Studies of Physical Frailty and Aging: Black Elderly Twin Study

Toni P. Miles — Thu, 13 Jun 2013 06:25:47 PDT

Taste Sensitivity to PTC and Thyroid Function (FT4 and TSH) in High- and Low-Altitude Kirghiz Populations in the Pamir

Florenzo Facchini et al. — Thu, 13 Jun 2013 06:25:44 PDT

Association of Retinol Binding Protein in Multiple-Case Families with Insulin-Dependent Diabetes

D. Krill et al. — Thu, 13 Jun 2013 06:25:42 PDT

Regional Distribution of Cystic Fibrosis-Linked DNA Haplotypes in Brazil: Multicenter Study

Salmo Raskin et al. — Thu, 13 Jun 2013 06:25:40 PDT

Sociobiology and HLA Genetic Polymorphism in Hill Tribes, the Irula of the Nilgiri Hills and the malayali of the Shevroy Hills, South India

R.M. Pitchappan et al. — Thu, 13 Jun 2013 06:25:37 PDT

Genetic Study of African Populations: Polymorphisms of the Plasma Proteins TF, PI, F13B, and AHSG in Populations of Namibia and Mozambique

Heidi Bieber et al. — Thu, 13 Jun 2013 06:25:36 PDT

Characterization of Four Short Tandem Repeat Loci (THO1, VWA31/A, CD4, and TP53) in Norther Portugal

Leonor Gusmão et al. — Thu, 13 Jun 2013 06:25:32 PDT

Correlations of Quantitative Chromosomal Heteromorphisms and Classic Genetic Markers to Demogeographic Data in Garfagna Valley (Tuscany Italy)

Giorgio Paoli et al. — Thu, 13 Jun 2013 06:25:31 PDT

Factor IX Gene Haplotypes in Amerindians

Rendrik F. Franco et al. — Thu, 13 Jun 2013 06:25:29 PDT

Book Reviews

Human Biology Editors — Thu, 13 Jun 2013 06:10:24 PDT

Breif Communication: Genetic Polymorphisms of Orosomucoid ORM1 and ORM2 in Egyptians, Sudanese, and Qataris: Occurance of Two New Alleles

I.M. Sebetan et al. — Thu, 13 Jun 2013 06:10:23 PDT

Population-Based, Genetically Informative Sample for Studies of Physical Frailty and Aging: Black Elderly Twin Study

Toni P. Miles — Thu, 13 Jun 2013 06:10:23 PDT

Taste Sensitivity to PTC and Thyroid Function (FT4 and TSH) in High- and Low-Altitude Kirghiz Populations in the Pamir

Florenzo Facchini et al. — Thu, 13 Jun 2013 06:10:21 PDT

Association of Retinol Binding Protein in Multiple-Case Families with Insulin-Dependent Diabetes

D. Krill et al. — Thu, 13 Jun 2013 06:10:20 PDT

Regional Distribution of Cystic Fibrosis-Linked DNA Haplotypes in Brazil: Multicenter Study

Salmo Raskin et al. — Thu, 13 Jun 2013 06:10:19 PDT

Sociobiology and HLA Genetic Polymorphism in Hill Tribes, the Irula of the Nilgiri Hills and the malayali of the Shevroy Hills, South India

R.M. Pitchappan et al. — Thu, 13 Jun 2013 06:10:18 PDT

Genetic Study of African Populations: Polymorphisms of the Plasma Proteins TF, PI, F13B, and AHSG in Populations of Namibia and Mozambique

Heidi Bieber et al. — Thu, 13 Jun 2013 06:10:17 PDT

Characterization of Four Short Tandem Repeat Loci (THO1, VWA31/A, CD4, and TP53) in Norther Portugal

Leonor Gusmão et al. — Thu, 13 Jun 2013 06:10:16 PDT

Correlations of Quantitative Chromosomal Heteromorphisms and Classic Genetic Markers to Demogeographic Data in Garfagna Valley (Tuscany Italy)

Giorgio Paoli et al. — Thu, 13 Jun 2013 06:10:15 PDT

Factor IX Gene Haplotypes in Amerindians

Rendrik F. Franco et al. — Thu, 13 Jun 2013 06:10:14 PDT

Examining the Hidden Ideologies within Cultural Competence Discourses among Library and Information Science (LIS) Students: Implications for School Library Pedagogy

Kafi D. Kumasi et al. — Wed, 12 Jun 2013 11:44:07 PDT

In order to provide culturally responsive instruction to all students, school library professionals need to recognize the various discourses around cultural competence that exist in the field of library and information science (LIS) and understand the broader meanings that are attached to these discourses. This study presents an evaluation of the underlying ideologies that are embedded in the textual responses of a group of LIS students reporting on their perceived levels of cultural competence preparation. The results reveal that there are dominant and competing discourses around cultural competence in the LIS field, which are important to make visible. The paper concludes with a discussion of how this kind of discourse analysis might inform pedagogies in the school library in ways that uniquely benefit historically marginalized students.