Ju L Y, Sun Y P, Semana G, Gu X F, Krishnamoorty R, Fauchet R, Charron D
Laboratoire Immunogénétique moléculaire, Institut Biomedical des Cordeliers, Paris, France.
Tissue Antigens. 1991 May;37(5):218-23. doi: 10.1111/j.1399-0039.1991.tb01875.x.
Eighteen unrelated Chinese patients with insulin-dependent diabetes mellitus (IDDM) were analyzed for HLA Class II genes using a variety of molecular biological techniques including restriction fragment length polymorphism (RFLP), polymerase chain reaction with allele-specific oligonucleotides (PCR-ASO) and direct DNA sequencing. The high frequency of DR3/DR4 heterozygotes found in the Chinese with IDDM strengthens the importance of this combination of haplotypes in IDDM susceptibility since it is present in two genetically distant populations--Chinese and Caucasians. The frequency of DRw9, a rare allele in the Caucasian population, is much higher in the Chinese. Moreover, the DQ beta chain linkage of DRw9 was different in IDDM patients compared with control subjects. In contrast with previous results, codon 57 of the DQ beta chain was aspartic acid in DRw9 Chinese IDDM patients. Furthermore, one particular DRw9-DQw9 haplotype may be associated with IDDM susceptibility in the Chinese population.
利用包括限制性片段长度多态性（RFLP）、等位基因特异性寡核苷酸聚合酶链反应（PCR - ASO）和直接DNA测序在内的多种分子生物学技术，对18例无亲缘关系的中国胰岛素依赖型糖尿病（IDDM）患者的HLA II类基因进行了分析。在中国IDDM患者中发现的DR3/DR4杂合子的高频率，强化了这种单倍型组合在IDDM易感性中的重要性，因为它存在于两个遗传距离较远的人群——中国人和高加索人中。DRw9在高加索人群中是一个罕见的等位基因，而在中国人群中的频率要高得多。此外，与对照受试者相比，IDDM患者中DRw9的DQβ链连锁情况有所不同。与先前的结果相反，DRw9中国IDDM患者的DQβ链第57密码子是天冬氨酸。此外，一种特定的DRw9 - DQw9单倍型可能与中国人群的IDDM易感性相关。
