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[汉族南方人群中与风湿热及风湿性心脏病遗传易感性相关的HLA - DQA1基因]

[HLA-DQA1 genes involved in genetic susceptibility to rheumatic fever and rheumatic heart disease in southern Hans].

作者信息

Gu J, Yu B, Zhou J

机构信息

Third Affiliated Hospital, Sun Yatsen University of Medical Sciences, Guangzhou.

出版信息

Zhonghua Nei Ke Za Zhi. 1997 May;36(5):308-11.

Abstract

The incidence of rheumatic fever (RF) or rheumatic heart disease (RHD) is high in southern China. We studied the genetic susceptibility of HLA-DQA1 alleles to RF or RHD with emphasis on the mechanisms 106 unrelated healthy individuals and 54 patients with RF or RHD of Chinese Han nationality in Guangdong were included. DNA extraction from various biological material using phenol/chloroform method and HLA-DQA1 genotyping by PCR-PAGE and then with silver dyeing was used to show the electrophoretic patterns. A total 6 alleles of HLA-DQA1 were found. Increased allele frequencies of DQA10101 (31.48%, RR = 2.89, P < 0.005, EF = 0.206) and decreased allele frequencies of DQA10102 (1.85%, RR = 0.106, P < 0.005, PF = 0.134) were observed. Two increased genotyping of HLA-DQA1 (DQA10101/0301, chi 2 = 8.84, P < 0.005 and DQA10101/0401, chi 2 = 6.23, P < 0.0025) and decreased genotyping of DQA10102/0301 (chi 2 = 11.98, P < 0.005) were also observed. These findings suggested that DQA10101 contribute to genetic susceptibility for RF or RHD in Guangdong hans while DQA1*0102 to its genetic resistance. Digesting the genotyping of HLA-DQA1 may provide scientific basis for finding susceptible individuals to RF or RHD. Using PCR-PAGE and silver dyeing technique, a new genotyping method for HLA-DQA1, which is simple sensitive and precise, was established and applied.

摘要

在中国南方,风湿热(RF)或风湿性心脏病(RHD)的发病率较高。我们研究了HLA - DQA1等位基因对RF或RHD的遗传易感性,重点关注其机制。纳入了106名无血缘关系的健康个体和54名广东汉族RF或RHD患者。采用酚/氯仿法从各种生物材料中提取DNA,通过PCR - PAGE然后银染进行HLA - DQA1基因分型,以显示电泳图谱。共发现6个HLA - DQA1等位基因。观察到DQA10101等位基因频率增加(31.48%,RR = 2.89,P < 0.005,EF = 0.206),而DQA10102等位基因频率降低(1.85%,RR = 0.106,P < 0.005,PF = 0.134)。还观察到两种HLA - DQA1基因分型增加(DQA10101/0301,χ2 = 8.84,P < 0.005和DQA10101/0401,χ2 = 6.23,P < 0.0025)以及DQA10102/0301基因分型降低(χ2 = 11.98,P < 0.005)。这些发现表明,DQA10101有助于广东汉族人群对RF或RHD的遗传易感性,而DQA1*0102则具有遗传抗性。对HLA - DQA1基因分型的研究可能为寻找RF或RHD的易感个体提供科学依据。采用PCR - PAGE和银染技术,建立并应用了一种简单、灵敏且精确的HLA - DQA1基因分型新方法。

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