Journal of human genetics · 2007
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Yuasa Isao, Umetsu Kazuo, Harihara Shinji, Miyoshi Aya, Saitou Naruya, Park Kyung Sook, Dashnyam Bumbein, Jin Feng, Lucotte Gérard, Chattopadhyay Prasanta K, Henke Lotte, Henke Jürgen
Аннотация
Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2 481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.