Analysis on allelic variation of the HLA-DMB gene in Japanese by PCR-RFLP as well as direct DNA sequencing and identification of a new DMB allele, DMB*0105.
Analysis on allelic variation of the HLA-DMB gene in Japanese by PCR-RFLP as well as direct DNA sequencing and identification of a new DMB allele, DMB*0105.
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通过 PCR-RFLP 分析日本人 HLA-DMB 基因的等位基因变异，以及直接 DNA 测序和新 DMB 等位基因 DMB*0105 的鉴定。
DOI：
10.1111/j.1399-0039.1996.tb02595.x
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发表时间：
1996
期刊：
影响因子：
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通讯作者：
H. Inoko
中科院分区：
文献类型：
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作者：
T. Naruse;H. Kawata;M. Ishihara;A. Ando;M. Kagiya;Y. Nose;G. Isshiki;H. Inoko
在HLA-D区域中，在DQ和DP基因之间已经鉴定出II类基因之一DMA和DMB，并且迄今为止已经识别出DMA（DMA * 0101约0104）和DMB（DMB * 0101约0104）基因中的每一个中的四个等位基因多态性。最近的一些研究表明，DM分子是II类抗原提呈途径所必需的，特别是通过促进抗原肽与经典的HLA II类分子的结合。在这项研究中，我们分析了遗传多态性和等位基因变异的DMB基因在日本人口的直接DNA测序技术和聚合酶链反应-限制性片段长度多态性PCR-RFLP法检测结果显示，对DMB * 0101、DMB * 0102、DMB * 0103、DMB * 0104的识别率分别为49.3%、23.2%、23.2%、0.4%。此外，还鉴定了一个新的DMB等位基因，DMB * 0105，其特征在于在两个多态性位点（密码子144和179）分别存在瓦尔和Ile。DMB * 0101与DRB 1 * 0101、DPB 1 * 0402与DRB 1 * 1502、DMB * 0103与DRB 1 * 1501、DQB 1 * 0602之间存在较强的连锁不平衡。HLA-DMB基因分型方法的建立，将提供准确的评估DMB基因的序列等位性的影响，HLA II类疾病的关联。
In the HLA-D region, one of the class II genes, DMA and DMB have been identified between the DQ and DP genes, and four allelic polymorphisms in each of the DMA (DMA*0101 approximately 0104) and DMB (DMB*0101 approximately 0104) genes have been so far recognized. Several recent studies suggested that the DM molecule is required for class II antigen presentation pathway especially by promoting the binding of antigenic peptides to the classical HLA class II molecule. In this study, we have analyzed genetic polymorphism and allelic variation of the DMB gene in a Japanese population by the direct DNA sequencing technique and also by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and could recognize DMB*0101 (49.3%), DMB*0102 (23.2%), DMB*0103 (23.2%), and DMB*0104 (0.4%). Further, a new DMB allele, DMB*0105 characterized by the presence of Val and Ile at two polymorphic sites, codons 144 and 179, respectively was identified. Strong linkage disequilibria were found between DMB*0101 and DRB1*0101, DPB1*0402 and DRB1*1502, and also between DMB*0103 and DRB1*1501 and DQB1*0602. HLA-DMB genotyping using the PCR-RFLP method established here will provide accurate evaluation of the effects of sequence allelism in the DMB gene on the HLA class II disease associations.
不变同源肽交换可恢复 HLA-DM 突变体中 II 类二聚体的稳定性。
DOI：
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发表时间：
1994
期刊：
Journal of immunology (Baltimore, Md. : 1950)
影响因子：
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作者：
Monji,T;McCormack,AL;Yates3rd,JR;Pious,D
通讯作者：
Pious,D