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

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.