Linked Life Data

17568986

Source:http://linkedlifedata.com/resource/pubmed/id/17568986

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2007-7-24
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
690-3
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
pubmed:affiliation
Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan. yuasai@grape.med.tottori-u.ac.jp
pubmed:publicationType
Journal Article