Molecular Basis of ESD*5 and ESD*7 and Haplotype Analysis with New Polymorphisms in Introns

Document Type

Article

Authors

Isao Yuasa, Tottori UniversityFollow
Kazuo Umetsu, Yamagata University School of Medicine
Shuichi Tsuchida, Nippon Veterinary and Animal Science University
Yoshito Irizawa, Tottori University

Abstract

The two polymorphic alleles of esterase D (ESD), ESD*5 and ESD*7, are specific to Europeans and Asians, respectively. In this study the molecular basis was characterized: ESD*5, arising from ESD*1, has a G to A transition, resulting in Gly257(GGT)VAsp(GAT); and ESD*7, originating from ESD*2, has an A to G transition, resulting in Asp231(GAT)V Gly(GGT). Glycine is also involved in the common ESD*1/ESD*2 polymorphism [Gly190(GGA)VGlu(GAA)]. Haplotype analysis using a few novel intragenic polymorphisms showed strong associations among polymorphic sites, suggesting that recombination has been less frequent in the human ESD gene, although it spans about 25 kb from exon 1 to exon 10. A marked difference was observed in the distribution of haplotype frequencies between Germans and Japanese.

Recommended Citation

Yuasa, Isao; Umetsu, Kazuo; Tsuchida, Shuichi; and Irizawa, Yoshito (2004) "Molecular Basis of ESD*5 and ESD*7 and Haplotype Analysis with New Polymorphisms in Introns," Human Biology: Vol. 76: Iss. 3, Article 10.
Available at: https://digitalcommons.wayne.edu/humbiol/vol76/iss3/10