title: MICB gene diversity and balancing selection on its promoter region in Yao population in southern China.
abstract: 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.
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Xiang
authors: X
authors: Chen
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Xuexiang
authors: X
authors: Liu
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Xiaomou
authors: X
authors: Wei
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Yuming
authors: Y
authors: Meng
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Limin
authors: L
authors: Liu
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Shini
authors: S
authors: Qin
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China.
authors: Yanyu
authors: Y
authors: Liu
authors: Medical Science Laboratory, The Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou 545005, Guangxi, China. Electronic address: daishm@sina.com.
authors: Shengming
authors: S
authors: Dai
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D020121:5' Untranslated Regions / Q000235:genetics*; D002681:China; D005006:Ethnicity; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D015395:Histocompatibility Antigens Class I; C098080:MICB antigen
keywords: Balancing selection; Gene diversity; Haplotype; MICB