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科威特胰岛素依赖型糖尿病儿童中HLA - DQB1非天冬氨酸(57)等位基因的高频率。

High frequency of HLA-DQB1 non-Asp(57) alleles in Kuwaiti children with insulin-dependent diabetes mellitus.

作者信息

Haider M Z, Shaltout A, Alsaeid K, Al-Khawari M, Dorman J S

机构信息

Paediatrics Department, Faculty of Medicine, Kuwait University,

出版信息

Hum Hered. 2000 Jul-Aug;50(4):242-6. doi: 10.1159/000022923.

Abstract

The prevalence of polymorphic amino acids at position 57 of the HLA DQB1 in Kuwaiti children with insulin-dependent diabetes mellitus (IDDM) and nondiabetic controls has been determined using a polymerase chain reaction-sequence-specific primers (PCR-SSP) method. Using this approach, 34/55 (62%) IDDM children were found to be homozygous Ala/Ala and 19/55 (35%) were heterozygous with various combinations. Amongst the IDDM children with heterozygous genotype at codon 57 of HLA DQB1, 6/55 (11%) had Asp/Ala, 8/55 (15%) had Ala/Val, 4/55 (7%) had Ala/Ser and 1/55 had Asp/Val allelic combinations. When considered collectively, the nonaspartate (NA) alleles were represented in 87% of the IDDM cases and only 13% cases had Asp(57) allele in different heterozygous combinations, while none of the IDDM subjects had a homozygous Asp genotype. In nondiabetic controls, homozygous non-Asp (NA) alleles were represented in 44% subjects, 37% of the controls were heterozygous (NA/A) and 19% had a homozygous (A/A) genotype. These differences between the IDDM group and the control group were found to be statistically significant. Our data report one of the highest frequency of NA/NA residues at this locus compared with that from different world populations (Sardinians, Norwegians, US Caucasians, US Blacks and Chinese).

摘要

采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,测定了科威特胰岛素依赖型糖尿病(IDDM)儿童和非糖尿病对照人群中HLA DQB1第57位多态性氨基酸的流行情况。通过这种方法,发现34/55(62%)的IDDM儿童为纯合子Ala/Ala,19/55(35%)为杂合子,有各种不同组合。在HLA DQB1密码子57为杂合基因型的IDDM儿童中,6/55(11%)为Asp/Ala,8/55(15%)为Ala/Val,4/55(7%)为Ala/Ser,1/55为Asp/Val等位基因组合。总体来看,非天冬氨酸(NA)等位基因在87%的IDDM病例中出现,只有13%的病例有不同杂合组合的Asp(57)等位基因,而没有IDDM受试者为纯合Asp基因型。在非糖尿病对照人群中,44%的受试者为纯合非Asp(NA)等位基因,37%的对照为杂合子(NA/A),19%为纯合子(A/A)基因型。发现IDDM组和对照组之间的这些差异具有统计学意义。与来自不同世界人群(撒丁岛人、挪威人、美国白种人、美国黑人及中国人)的数据相比,我们的数据显示该位点NA/NA残基的频率是最高的之一。

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HLA-DQB1 codon 57 and IDDM in Chinese living in Taiwan.
Diabetes Care. 1994 Aug;17(8):863-8. doi: 10.2337/diacare.17.8.863.

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