GENE-FREQUENCIES AND HAPLOTYPIC ASSOCIATIONS WITHIN THE HLA REGION IN 916 UNRELATED JAPANESE INDIVIDUALS
GENE-FREQUENCIES AND HAPLOTYPIC ASSOCIATIONS WITHIN THE HLA REGION IN 916 UNRELATED JAPANESE INDIVIDUALS
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DOI：
10.1111/j.1399-0039.1994.tb02375.x
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发表时间：
1994-09-01
期刊：
影响因子：
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通讯作者：
FUKUNISHI, T
中科院分区：
文献类型：
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作者：
HASHIMOTO, M;KINOSHITA, T;FUKUNISHI, T
在916个无关的日本人中研究了HLA区域内的基因频率和单倍型关联。用常规血清学方法检测HLA Ⅰ类和Ⅱ类抗原，用聚合酶链反应扩增-序列特异性寡核苷酸探针（PCR-SSOP）方法分型Ⅱ类等位基因DRB 1、DRB 3、DQA 1、DQB 1和DPB 1。DRB 1 30例，DRB 3 3例，DQA 1 8例，DQB 1 15例，DPB 1 13例。DR-NJ 25是美洲原住民和亚洲人群中的特征性抗原，观察到为3.0%。该抗原主要与DRB 1 *1403和1406等位基因一起观察到。在本研究中发现的30个DRB 1等位基因中，有27个与DQB 1等位基因存在高度正连锁不平衡，其中20个与DQA 1-DQB 1的一个组合存在排他性关联。DRB 1等位基因和HLA-B抗原之间的强关联是这项研究中最引人注目的发现。30个DRB 1等位基因中有28个与24个HLA-B抗原存在正连锁不平衡（P
The gene frequencies and haplotypic associations within the HLA region have been investigated in 916 unrelated Japanese individuals. HLA class I and class II antigens were studied by conventional serology, and class II alleles, DRB1, DRB3, DQA1, DQB1 and DPB1 were typed by using polymerase-chain reaction amplification and sequence-specific oligonucleotide probe (PCR-SSOP) method. Thirty DRB1, 3 DRB3, 8 DQA1, 15 DQB1 and 13 DPB1 alleles were found in our population. DR-NJ25, a characteristic antigen in the native American and Asian populations, was observed at 3.0%. This antigen was observed mainly with the DRB1*1403 and 1406 alleles. Twenty-seven out of 30 DRB1 alleles found in this study had a high positive linkage disequilibrium with DQB1 alleles and 20 of them had an exclusive association with one specific DQA1-DQB1 combination. The strong association between DRB1 alleles and HLA-B antigens was the most striking finding in this study. Twenty-eight out of 30 DRB1 alleles had a positive linkage disequilibrium with 24 HLA-B antigens (p