A Historical Aspect of Lysinuric Protein Intolerance in a Northern Part of Iwate, Japan

Document Type

Article

Authors

Yusuke Inoue, Department of Global Health and Socio-Epidemiology, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
Keiichi Fukagaya, Department of Health and Environmental Sciences, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
Akiko Kada, Department of Biostatistics, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
Norio Matsura, Department of Health and Environmental Sciences, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
Yuhei Takasago, Morioka Children’s Hospital, Morioka 020-0102, Japan.
Akio Koizumi, Department of Health and Environmental Sciences, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.

Abstract

Historical aspects of a local cluster of individuals with lysinuric protein intolerance (LPI) were studied in a sample of patients and in a massscreened population in a northern area of Japan. The historical aspects were investigated by estimating the mutation age and analyses of haplotype diversity of the chromosome carrying the R410X mutation. This mutation occurred over 1000 years ago, and its fixation in the local cluster suggests that LPI had been a nearly neutral phenotype. The present results also give an estimate of the geographical distribution of the R410X mutation, providing a basis for targeting populations for mass screening for LPI.

Recommended Citation

Inoue, Yusuke; Fukagaya, Keiichi; Kada, Akiko; Matsura, Norio; Takasago, Yuhei; and Koizumi, Akio (2003) "A Historical Aspect of Lysinuric Protein Intolerance in a Northern Part of Iwate, Japan," Human Biology: Vol. 75: Iss. 1, Article 7.
Available at: https://digitalcommons.wayne.edu/humbiol/vol75/iss1/7