BACKGROUND:Screening of fare blood types has been successively implemented and completed in Europe, America and Japan, but there is a large gap in China. Previous studies have mainly focused on the southern Han populations, and little is reported on PCR-SSP systematic analysis of gene frequencies of rare blood groups in Xinjiang Uygur populations. OBJECTIVE:To investigate the gene frequency distribution of RBC MNS, Duffy, Kel, Dombrock, Diego, Kidd, Scianna, Colton and Lutheran blood groups from Xinjiang Uygur populations, thereby providing a strategic support for human population genetics and clinical blood deployment. METHODS:PCR-SSP method was used to make genotyping and statistical analysis in 158 Xinjiang Uygur persons from nine rare blood groups. RESULTS AND CONCLUSION: Gene frequencies of these nine rare blood groups were M=0.579 1, N=0.420 9, S=0.174 3, s=0.800 9, Fya=0.699 4, Fyb=0.300 6, K1=0.015 8, K2=0.984 2, Doa=0.234 2, Dob=0.765 8, Dia=0.047 4, Dib=0.952 6, JKa=0.541 2, JKb=0.452 6, Sc1=1.000, Sc2=0, Coa=0.994, Cob=0.005 9, Lua=0, Lub=1.000, Aua=0.810 2, Aub=0.189 9. Results from chi-square test showed that the observed value and expected value of genotypes were in line with the law of Hardy-Weinberg equilibrium (P > 0.05), and in the MNS blood group of Xinjiang Uygur population, it was rarely found that S-s- frequency was 0.025 3 in four cases and Jka-b- frequency was 0.006 3 in one case. This study demonstrates that the frequency distribution of MNS, Duffy, Dombrock and Diego blood groups in the Xinjiang Uygur population, with its own unique frequency distribution characteristics, is different from that in other ethnic populations; the gene distribution of Kel, Kidd and Colton blood groups shows either similarity or difference between the Xinjiang Uygur population and reported Tibet and Han populations; Scianna and Lutheran blood groups show a monomorphic distribution in the Xinjiang Uygur population, which is similar to that in the Tibet and Han populations. These findings provide the basic data for exploring the origin and evolution, ethnic hematology and construction of rare blood database of the Xinjiang Uygur population. Cite this article:Lin GY, Du XL, Shan JJ, Zhang YN, Zhang YQ, Zhang YZ.Molecular genetic analysis of genes from MNS, Duffy and Kel blood groups in the China Xinjiang Uygur population. Zhongguo Zuzhi Gongcheng Yanjiu. 2016;20(1):123-127.%背景：欧、美、日等都先后实施和完成了相关的稀有血型筛选项目，但国内还有较大差距，研究主要集中在南方地区汉族人群，对新疆地区维吾尔族人群稀有血型基因频率用PCR-SSP方法进行系统研究的报道较少。目的：探讨新疆维吾尔族人群红细胞 MNS、Duffy、Kel、Dombrock、Diego、Kidd、Scianna、Colton 和Lutheran血型系统基因频率分布情况，为人类群体遗传学及临床科学调配合适血液提供战略支撑。方法：采用PCR-SSP法对158名新疆维吾尔族人群9个稀有血型系统进行基因分型和统计学分析。结果与结论：新疆维吾尔族人群9个稀有血型基因频率依次为M=0.5791，N=0.4209，S=0.1743，s=0.8009， Fya=0.6994，Fyb=0.3006，K1=0.0158，K2=0.9842，Doa=0.2342，Dob=0.7658，Dia=0.0474，Dib=0.9526， JKa=0.5412，JKb=0.4526，Sc1=1.000，Sc2=0，Coa=0.994，Cob=0.0059，Lua=0，Lub=1.000，Aua=0.8102， Aub=0.1899，用χ2检验比较基因型分布的观察值与期望值符合Hardy-Weinberg平衡法则(P >0.05)，且发现维族人群MNS血型系统基因表现型罕见存在S-s-4例频率为0.0253，Jka-b-1例频率为0.0063。结果表明新疆维吾尔族人群MNS、Duffy、Dombrock和Diego 4种血型系统频率分布与其他种族明显不同，具有独特的自身分布频率特点；Kel、Kidd 和 Colton 基因分布与报道的藏族、汉族其他人群分布相似又有差异；Scianna和Lutheran呈单态性分布，与藏族、汉族其他人群分布特点相同。该成果对探讨新疆维吾尔族人群起源进化、民族血液学研究以及稀有血型库的建设等方面提供了基本数据，具有重要意义。
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