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Hum Biol. 2003 Feb;75(1):81-90.

A historical aspect of lysinuric protein intolerance in a northern part of Iwate, Japan.

Author information

1
Department of Global Health and Socio-Epidemiology, 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 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.

PMID:
12713148
DOI:
10.1353/hub.2003.0024
[Indexed for MEDLINE]

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