Haider M Z, Shaltout A, Alsaeid K, Al-Khawari M, Dorman J S
Paediatrics Department, Faculty of Medicine, Kuwait University,
Hum Hered. 2000 Jul-Aug;50(4):242-6. doi: 10.1159/000022923.
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).
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。
