人类皮肤颜色基因的SNP统计分析  

Statistic analysis of SNP for human skin color gene

作　　者：蔡禄[1] 黄伟[1] 崔向军[1] 

机构地区：[1]内蒙古科技大学生物与化学工程学院,内蒙古包头014010

出　　处：《内蒙古科技大学学报》2007年第4期345-348,共4页Journal of Inner Mongolia University of Science and Technology

基　　金：国家自然科学基金资助项目(60761001);内蒙古自然科学基金重点资助项目(200508010102)

摘　　要：与人类皮肤颜色相关的6个主导基因,依次为SLC24A5,OCA2,SLC45A2,MLPH,MC1R和ASIP,对其5’端、3’端、内含子区和CDS区进行分析,发现5-’UTR SNP为0个,皮肤颜色基因的SNP发生的频率为每598个碱基一个,属于转换型变异的SNP约占全部SNP的2/3.充分证明人类皮肤颜色基因区5-’UTR是极为保守的,但CDS区却为SNP的高发区.同时通过四类人群肤色基因的SNP差异程度来构建他们的亲源关系,最近的亲源关系存在于中国人与日本人间.Six dominant genes related to human skin color are SLC24A5, OCA2, SLG45A2. MLPH, MC1R and ASIP, among which, the 5＇-end, the 3＇ -end, and regions of intron and CDS were analyzed. It was found that the count of SNP of 5＇ -UTR is 0, the frequency of SNP in skin color gene was one every 598 base pairs, the frequency of transit/on ~or all SNP was about 2/3. It was fully proved that 5 ＇-UTR o~ human skin color gene was extremely conservative. However, the frequency of SNP in CDS was extremely high. Simultaneity homology was constructed by the degree of difference in skin color genes, and the closest homology was found between Chinese and Japanese.

关 键 词：SNP 皮肤颜色基因 颠换 转换 统计分析 

分 类 号：Q811.4[生物学—生物工程]