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Ann Hum Genet ; 70(Pt 6): 946-50, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17044868

RESUMO

The human HS1,2 enhancer of the immunoglobulin (Ig) heavy chain 3' enhancer complex plays a central role in the regulation of Ig maturation and production. Four common alleles HS1,2-A*1, *2, *3, *4 are directly implicated with the transcription level and at least one of them, HS1, 2-A*2, seems to be related to immune disorders, such as coeliac disease, herpetiform dermatitis and Berger syndrome. Given their clinical significance it is of interest to know the distribution of HS1,2-A variants in populations from different continents, as well as to determine whether the polymorphism is associated to specific evolutionary factors. In this paper we report the distribution of the HS1,2-A polymorphism in 1098 individuals from various African, Asian and European populations. HS1,2-A*3 and HS1,2-A*4 alleles are at their highest frequencies among Africans, and HS1,2-A*2 is significantly lower in Africans in comparison with both Europeans and, to a lesser extent, Asians. Analysis of molecular variance of the allele frequencies indicates that the HS1,2-A polymorphism can be considered as a reliable anthropogenetic marker.


Assuntos
Elementos Facilitadores Genéticos , Genes de Cadeia Pesada de Imunoglobulina , Polimorfismo Genético , Povo Asiático/genética , População Negra/genética , Frequência do Gene , Marcadores Genéticos , Genética Populacional , Humanos , Modelos Genéticos , População Branca/genética
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