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HLA-DRB1和DQ等位基因与1型糖尿病遗传易感性之间的关系。

Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes.

作者信息

Sang Y, Yan C, Zhu C, Ni G

机构信息

Department of Endocrinology, Beijing Children's Hospital, Capital University of Medical Sciences, Beijing 100045, China.

出版信息

Chin Med J (Engl). 2001 Apr;114(4):407-9.

Abstract

OBJECTIVE

To study the relationship between human leukocyte antigen (HLA)-DRB1 and DQ alleles and the genetic susceptibility of type 1 diabetes in North Chinese children.

METHODS

Polymerase chain reaction (PCR) techniques were used to amplify the second exon of DRB1 and DQ alleles, after which sequence specific olignucleotide probe (SSOP) dot blot hybridization techniques were used to analyze the amplified products.

RESULTS

DRB1 * 0301, DQA1 * 0301, DQB1 * 0201 alleles and DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype were significantly increased in patients, while DQA1 * 0103 and DQB1 * 0601 alleles were significantly increased in controls. The distribution of DR4 and DR9 haplotypes in patients and controls were not significantly different, but DR3/DR4 and DR4/DR9 heterozygotes were significantly increased in patients.

CONCLUSIONS

DRB1 * 0301, DQA1 * 0301 and DQB1 * 0201 confer susceptibility while DQA1 * 0103 and DQB1 * 0601 confer protection to type 1 diabetes. DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.

摘要

目的

研究人类白细胞抗原(HLA)-DRB1和DQ等位基因与中国北方儿童1型糖尿病遗传易感性的关系。

方法

采用聚合酶链反应(PCR)技术扩增DRB1和DQ等位基因的第二外显子,之后用序列特异性寡核苷酸探针(SSOP)斑点杂交技术分析扩增产物。

结果

患者中DRB1 * 0301、DQA1 * 0301、DQB1 * 0201等位基因及DRB1 * 0301-DQA1 * 0501-DQB1 * 0201单倍型显著增加,而对照组中DQA1 * 0103和DQB1 * 0601等位基因显著增加。患者和对照组中DR4和DR9单倍型的分布无显著差异,但患者中DR3/DR4和DR4/DR9杂合子显著增加。

结论

DRB1 * 0301、DQA1 * 0301和DQB1 * 0201赋予1型糖尿病易感性,而DQA1 * 0103和DQB1 * 0601赋予保护性。DRB1 * 0301-DQA1 * 0501-DQB1 * 0201单倍型使中国北方人易患1型糖尿病。虽然患者和对照组中DR4和DR9的分布无显著差异,但患者中DR3/DR4和DR3/DR9杂合子显著增加,表明DR3和DR4或DR4和DR9单倍型的易感效应可能会叠加。

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