眼皮肤白化病Ⅳ型基因MATP的SNPs与皮肤颜色  

SNPs in the gene MATP of oculocutaneous albinism type 4 and skin color

作　　者：谭雪梅[1] 郑辉[1] 李洪义[2] 黄志刚[1] 

机构地区：[1]暨南大学医学院生理学教研室,广州510632 [2]中山大学中山医学院医学遗传学研究室,广州510080

出　　处：《中国优生与遗传杂志》2009年第4期9-10,20,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(30672003);广东省医学科研基金(A2005345)

摘　　要：皮肤颜色差异是人类生物学中最易见、区分不同人群的差异之一,这种差异来自自然的选择,有几个候选基因可以解释其中差异,其中眼皮肤白化病Ⅳ型基因MATP就是其中之一。眼皮肤白化病Ⅳ型基因MATP至今已发现有11种单核苷酸多态性(SNPs),这些SNPs中有些与皮肤颜色有显著相关,如p.Phe374Leu。Skin color, one of the most visible signs of human biological variation and one of most obvious phenotypes that distingnish human populations, have been affected by natural selection. Several genes are known to be responsible for, one of which is MATP. There are 11 SNPs in the gene MATP , some of which are associated with skin color , such as p. Phe374Leu.

关 键 词：白化病 MATP SNPS 色素沉着 SLC45A2 

分 类 号：R596[医药卫生—内科学]