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HLA-DR8等位基因的进化关系及阿尔及利亚人群中一种新亚型(DRB1*0806)的描述。

Evolutionary relationships of HLA-DR8 alleles and description of a new subtype (DRB1*0806) in the Algerian population.

作者信息

Benmamar D, Martinez-Laso J, Varela P, Bekhoucha F, Morales P, Arnaiz-Villena A

机构信息

Department of Immunology, 12th of October Hospital, Complutense University, Madrid, Spain.

出版信息

Hum Immunol. 1993 Mar;36(3):172-8. doi: 10.1016/0198-8859(93)90122-h.

Abstract

A new HLA-DR8 allele (HLA-DRB10806) found in the Algerian population is described here. This allele has an exon-2 nucleotide sequence identical to that of the HLA-DRB10801 allele, except for a GGT to GTG change in codon 86, yielding an amino acid substitution (glycine to valine). This change is also found in other HLA-DRB1 and HLA-DRB3 evolutionary-related allele pairs. HLA-DRB10806 is the most frequent HLA-DR8 allele found in this population (three of eight HLA-DR8-positive individuals) and is included within the HLA-DQA10102-DQB10602 haplotype (HLA-DQ6 serotype). This combination of HLA-DQ alleles is sporadically found associated with other HLA-DR8 alleles in other ethnic groups, i.e., HLA-DRB10804 in Bushmen and in North American blacks and HLA-DRB10803 in African blacks. Also, the HLA-DRB10806-DQ6 haplotype only bears one HLA-DRB gene copy, a common characteristic of the HLA-DR8 haplotype family. An exon-2 HLA-DR8 dendrogram has also been constructed with the available sequence data, indicating that this new allele does not seem to be placed at a distance significantly different from the origin to that of HLA-DRB1*0804 (proposed to be the eldest in the HLA-DR8 allele diversification pathway). A possible HLA-DR8 evolutive pathway is postulated according to the available exon-2 HLA-DR8 allele sequences.

摘要

本文描述了在阿尔及利亚人群中发现的一种新的HLA - DR8等位基因(HLA - DRB10806)。该等位基因的外显子2核苷酸序列与HLA - DRB10801等位基因相同,只是密码子86处发生了GGT到GTG的变化,导致氨基酸替换(甘氨酸替换为缬氨酸)。这种变化也见于其他HLA - DRB1和HLA - DRB3进化相关的等位基因对。HLA - DRB10806是该人群中最常见的HLA - DR8等位基因(8例HLA - DR8阳性个体中有3例),并包含在HLA - DQA10102 - DQB10602单倍型(HLA - DQ6血清型)中。这种HLA - DQ等位基因组合在其他种族群体中偶尔与其他HLA - DR8等位基因相关联,如布须曼人和北美黑人中的HLA - DRB10804以及非洲黑人中的HLA - DRB10803。此外,HLA - DRB10806 - DQ6单倍型仅携带一个HLA - DRB基因拷贝,这是HLA - DR8单倍型家族的一个共同特征。还利用现有序列数据构建了外显子2的HLA - DR8树状图,表明这个新等位基因与HLA - DRB1*0804(被认为是HLA - DR8等位基因多样化途径中最古老的)在距起源点的距离上似乎没有显著差异。根据现有的外显子2 HLA - DR8等位基因序列推测了一种可能的HLA - DR8进化途径。

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