title: A historical aspect of lysinuric protein intolerance in a northern part of Iwate, 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 mass-screened 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.
authors.affiliation: Department of Global Health and Socio-Epidemiology, Kyoto University, School of Public Health, Kyoto, 606-8501 Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Inoue
authors.forename: Keiichi
authors.initials: K
authors.lastname: Fukagaya
authors.forename: Akiko
authors.initials: A
authors.lastname: Kada
authors.forename: Norio
authors.initials: N
authors.lastname: Matsura
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Takasago
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
mesh_terms: D000483:Alleles; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology* / Q000235:genetics*; D016000:Cluster Analysis; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008239:Lysine / Q000378:metabolism*; D008403:Mass Screening; D009010:Monte Carlo Method; D009154:Mutation; D010375:Pedigree
chemical_list: D008239:Lysine