MICB gene diversity and balancing selection on its promoter region in Yao population in southern China

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• 作者：Xiang Chen¹ ; Xuexiang Liu¹ ; Xiaomou Wei¹ ; Yuming Meng ; Limin Liu ; Shini Qin ; Yanyu Liu ; Shengming Dai ; ^{daishm@sina.com}
• 关键词：MICB ; Gene diversity ; Haplotype ; Balancing selection
• 刊名：Human Immunology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：77
• 期：12
• 页码：1187-1193
• 全文大小：423 K
• 卷排序：77

文摘

To comprehensively examine the MICB gene polymorphism and identify its differences in Chinese Yao population from other ethnic groups, we investigated the polymorphism in the 5′-upstream regulation region (5′-URR), coding region (exons 2–4), and the 3′-untranslated region (3′-UTR) of MICB gene by using PCR-SBT method in 125 healthy unrelated Yao individuals in Guangxi Zhuang Autonomous Region. Higher polymorphism was observed in the 5′-URR, nine single nucleotide polymorphisms (SNPs) and a two base pairs deletion at position −139/−138 were found in our study. Only five different variation sites, however, were detected in exons 2–4 and three were observed in the 3′-UTR. The minor allele frequencies of all variants were greater than 5%, except for rs3828916, rs3131639, rs45627734, rs113620316, rs779737471, and the variation at position +11803 in the 3′-UTR. The first nine SNPs of 5′-URR and rs1065075, rs1051788 of the coding region showed significant linkage disequilibrium with each other. Ten different MICB extended haplotypes (EH) encompassing the 5′-URR, exons 2–4, and 3′-UTR were found in this population, and the most frequent was EH1 (23.2%). We provided several evidences for balancing selection effect on the 5′-URR of MICB gene in Yao population.