HLA DQA, DQB, AND DRB GENOTYPING BY OLIGONUCLEOTIDE ANALYSIS - DISTRIBUTION OF ALLELES AND HAPLOTYPES IN BRITISH CAUCASOIDS
HLA DQA, DQB, AND DRB GENOTYPING BY OLIGONUCLEOTIDE ANALYSIS - DISTRIBUTION OF ALLELES AND HAPLOTYPES IN BRITISH CAUCASOIDS
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DOI：
10.1016/0198-8859(92)90085-2
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发表时间：
1992-05-01
期刊：
影响因子：
2.7
通讯作者：
MOWAT, AP
中科院分区：
文献类型：
--
作者：
DOHERTY, DG;VAUGHAN, RW;MOWAT, AP
本文描述了一种利用序列特异性寡核苷酸（SSO）探针进行基因扩增和杂交的综合HLA DQA和DQB基因分型的精确方法。使用24个SSO探针检测DQ基因第二外显子核苷酸序列变异定义的所有DQ等位型，每个位点上的所有探针使用一套标准条件。用该方法对500个个体进行了8个DQA1和16个DQB1等位基因的分型，并使用先前描述的SSO探针对DRB1、DRB3、DRB4和DRB5基因的33个等位基因进行了分型。根据已知的II类等位基因间连锁不平衡，鉴定了4个位点的DQB1-DQA1-DRB1-DRB3/4/5单倍型。在核苷酸序列水平上进一步鉴定了52种不同的单倍型，并鉴定了两种新的单倍型。报告了这些等位基因和单倍型在英国177个随机选择的健康高加索人对照中的分布。这些结果进一步确定了HLA II类区域的单倍型多样性，尽管DR和DQ基因位点之间存在强烈的连锁不平衡。
A precise method for comprehensive HLA DQA and DQB genotyping using gene amplification and hybridization with sequence-specific oligonucleotide (SSO) probes is described. Twenty-four SSO probes were used to detect all DQ allotypes defined by nucleotide sequence variation in the second exons of the DQ genes, using a standard set of conditions for all probes at each locus. Five hundred individuals were genotyped for 8 DQA1 and 16 DQB1 alleles by using this method and for 33 alleles of the DRB1, DRB3, DRB4, and DRB5 genes by using previously described SSO probes. The 4-locus DQB1-DQA1-DRB1-DRB3/4/5 haplotypes present were characterized on the basis of known linkage disequilibrium between class II alleles. Fifty-two different haplotypes that have previously been described were further characterized at the nucleotide sequence level and two novel haplotypes were identified. The distributions of these alleles and haplotypes in 177 randomly selected healthy Caucasoid controls from the United Kingdom are reported. These results identify further haplotypic diversity in the HLA class II region, even though strong linkage disequilibrium exists between the DR and DQ gene loci.