肤色、发色、眼色相关的22个单核苷酸多态性在江苏汉族和欧洲人群中的差异分析

The difference analyses of 22 SNP associated with skin pigmentation,hair color,eye color between Jiangsu Han and European populations

目的检测与肤色、发色、眼色相关的22个单核苷酸多态性在江苏汉族(CHX)和欧洲人群(CEU)中的差异。方法利用Illumina人类全基因组SNP分型芯片(Human660W-Quad v1.0 DNA Analysis Kit)对江苏地区163例汉族个体的657 366个SNP位点进行分型。并对其中22个与肤色、发色、眼色相关的SNP位点的等位基因频率在江苏汉族和欧洲人群及3个参考人群—北京汉族人群(CHB)、日本东京的日本人群(JPT)、尼日利亚伊巴丹的约鲁巴人群(YRI)—进行差异分析。此外,结合多维尺度分析法,分析这5个人群的遗传结构。结果江苏汉族人群与欧洲人群在等位基因频率分布上有19个显著性差异位点,与尼日利亚伊巴丹的约鲁巴人和日本东京的日本人群分别有10和2个显著差异位点。多维尺度分析结果表明江苏汉族、北京汉族及日本东京的日本人群的遗传结构相似,但与欧洲人群和尼日利亚伊巴丹的约鲁巴人群有显著差异存在。结论本研究揭示了22个与肤色、发色、眼色相关的SNP等位基因频率在江苏汉族人群中分布情况和特点,证实了这些SNP位点的等位基因频率存在种族、地区差异。

Objective： To explore the difference of 22 SNP associated with skin pigmentation, hair color, eye color between Jiang- su Han and European populations. Methods ： Genotype 657 366 SNP were performed by Illumina Human660W - Quad vl. 0 BeadChips in 163 Jiangsu Han individuals. Twenty -two SNP associated with skin pigmentation, hair color, eye color was selected. Analyses were conducted on the differences of allele frequencies between Jiangsu Han and Europeans along with three reference populations （CHB, JPT, YRI）. Moreover, the genetic structure was analyzed by multidimensional scaling analysis for the five populations. Re- suits： There are significant allele frequency differences of the 19 SNP loci between CHX and CEU, while YRI and JPT are significant differences of 10 and 2 SNP. Multidimensional scaling analysis showed that the genetic structure of CHX, CHB and JPT are similar, while significant genetic structure difference is implied from CEU and YRI. Conclusion： This study presented the allele frequencies of 22 SNP associated with skin pigmentation, hair color, eye color in Han in Jiangsu Province, and revealed the ethnic and geographic difference of these SNP.