HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency.
HLA-Cw alleles associated with HLA extended haplotypes and C2 deficiency.
复制标题
HLA-Cw 等位基因与 HLA 扩展单倍型和 C2 缺陷相关。
DOI：
10.1111/j.1399-0039.1998.tb03045.x
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Yunis,EJ
中科院分区：
文献类型：
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作者：
Clavijo,OP;Delgado,JC;Awdeh,ZL;Fici,D;Turbay,D;Alper,CA;Truedsson,L;Yunis,EJ
有四个MHC连锁的补体基因，BF，C2，C4a和C4b，作为单个DNA单位遗传，称为复合型。扩展单倍型最初是通过研究与人类白细胞抗原-B和人类白细胞抗原-DR基因座相关的复杂类型在高加索家庭中的分布来定义的。为了分析人类白细胞抗原Cw等位基因的分布与扩展单倍型的关系，我们研究了代表高加索人扩展单倍型的大量MHC纯合子和杂合子细胞系，以及14名完全C2缺陷的患者。采用序列特异性寡核苷酸探针杂交法(SSOP)进行等位基因分型。家系分析用于确定杂合子样本的单倍型。我们发现每个独立扩展单倍型都有不同的HLA-Cw等位基因。它们在每个病例中的关联性均有统计学意义，所有携带单倍型[HLA-B18，S042，DR2]的C2缺乏症患者均与HLA-Cw*1203关联。这些保守的等位基因组合可能成为研究人类进化的重要工具，并可能有助于临床移植中快速选择潜在的捐赠者。
There are four MHC‐linked complement genes, BF, C2, C4A and C4B, that are inherited as single DNA units, known as complotypes. Extended haplotypes were initially defined by studying the distribution of complotypes in relation to HLA‐B and HLA‐DR loci in Caucasian families. In order to analyze the distribution of HLA‐Cw alleles in relation to extended haplotypes, we studied a large panel of MHC homozygous and heterozygous cell lines representing previously described Caucasian‐derived extended haplotypes and 14 patients with complete C2 deficiency. HLA alleles were assigned using sequence‐specific oligonucleotide probe hybridization (SSOP). Family analysis served to assign haplotypes for heterozygous samples. We found distinctive HLA‐Cw alleles for each independent extended haplotype. Their association in each instance was statistically significant All patients with C2 deficiency carrying the haplotype [HLA‐B18, S042, DR2] were associated with HLA‐Cw*1203. These conserved allelic combinations may become an important tool for the study of human evolution and may contribute to the expeditious selection of prospective donors in clinical transplantation.