Diversity of the MBL2 Gene in Various Brazilian Populations and the Case of Selection at the Mannose-Binding Lectin Locus
作者： A.B.W. Boldt , L. Culpi , L.T. Tsuneto , I.R. de Souza , J.F.J. Kun
DOI: 10.1016/J.HUMIMM.2006.05.009
关键词: Balancing selection 、 Biology 、 Locus (genetics) 、 Genetics 、 Gene flow 、 Single-nucleotide polymorphism 、 Linkage disequilibrium 、 MBL deficiency 、 Haplotype 、 Allele
摘要: The mannose binding lectin (MBL2) polymorphism is responsible for a common immunodeficiency in the human species. There were suggestions that MBL2 has been under balancing selection, based on high global frequency of alleles generating MBL deficiency and worldwide distribution diseases negatively associated with them. To describe allelic haplotypes Brazilian populations to discuss evolution this polymorphism, we analyzed six South (152 Guarani Amerindian, 239 Kaingang 107 admixed, 32 Afro-Brazilian, 202 Euro-Brazilian 16 Oriental-Brazilian). Eight observed: MBL2*HYPA, LYQA, LYPA, LXPA, LYPB, LYQC, HYPD, LYPD. In addition, through sequencing promoter exon 1 from Amerindian Oriental individuals, three new single-nucleotide polymorphisms (SNPs) found region Kaingang. Analysis data by neutrality tests (Tajima's D Fu Li's D* F*) revealed no deviation selective equilibrium Significant Fay Wu's H results are explained recent gene flow these populations. Contrarily previous thoughts, stochastic evolutionary factors seem therefore have had predominant role shaping at least Amerindians.
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