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[HLA-DQA1启动子区域多态性(QAP)与胰岛素依赖型糖尿病的关联]

[Association of polymorphism for HLA-DQA1 promotor region (QAP) with IDDM].

作者信息

Qiu C, Song C, Zhou W, Hu X, Bai S

机构信息

Institute of Basic Medical Sciences, CAMS, Beijing.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1994 Dec;16(6):411-5.

PMID:7720136
Abstract

We have identified the DNA polymorphism for the HLA-DQA1 promotor region (QAP) in patients with early and late onset insulin-dependent diabetes mellitus (IDDM) by PCR direct sequencing. The result showed that single nucleotide substitution at position-92(C-->T-92) and -146 (T-->C-146) were detected in QAP for early and late onset IDDM respectively. These findings suggests that the mutation seems to alter the conformation of QAP so that these are likely to influence the aberrant expression of MHC-class II loci in beta-pancreatic islet cells.

摘要

我们通过聚合酶链反应直接测序法,鉴定了早发型和晚发型胰岛素依赖型糖尿病(IDDM)患者中人类白细胞抗原-DQA1启动子区域(QAP)的DNA多态性。结果显示,早发型和晚发型IDDM的QAP中分别检测到-92位(C→T-92)和-146位(T→C-146)的单核苷酸替换。这些发现表明,该突变似乎改变了QAP的构象,因此可能会影响β胰岛细胞中MHC-II类基因座的异常表达。

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