Giambra V, Martínez-Labarga C, Giufré M, Modiano D, Simporé J, Gisladottir B K, Francavilla R, Zhelezova G, Kilic S S, Crawford M, Biondi G, Rickards O, Frezza D
Dipartamento Biologia E. Calef, Università di Roma Tor Vergata, Viale della ricerca scientifica, 00133 Rome, Italy.
Ann Hum Genet. 2006 Nov;70(Pt 6):946-50. doi: 10.1111/j.1469-1809.2006.00273.x.
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-A1, 2, 3, 4 are directly implicated with the transcription level and at least one of them, HS1, 2-A2, 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-A3 and HS1,2-A4 alleles are at their highest frequencies among Africans, and HS1,2-A2 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.
免疫球蛋白（Ig）重链3'增强子复合体的人类HS1,2增强子在Ig成熟和产生的调节中起核心作用。四个常见等位基因HS1,2-A1、2、3、4与转录水平直接相关，其中至少一个等位基因HS1,2-A2似乎与免疫疾病有关，如乳糜泻、疱疹样皮炎和伯杰综合征。鉴于它们的临床意义，了解不同大陆人群中HS1,2-A变体的分布情况，以及确定该多态性是否与特定的进化因素相关，是很有意义的。在本文中，我们报告了来自非洲、亚洲和欧洲不同人群的1098名个体中HS1,2-A多态性的分布情况。HS1,2-A3和HS1,2-A4等位基因在非洲人中的频率最高，与欧洲人以及在较小程度上与亚洲人相比，HS1,2-A2在非洲人中的频率显著较低。等位基因频率的分子方差分析表明，HS1,2-A多态性可被视为一种可靠的人类遗传学标记。
