华南地区IDDM易感性与HLA DQA_1第52位精氨酸相关性的探讨  

THE ASSOCIATION OF HLA DQA_1 52 ARGININE (+ ) WITH IDDM SUSCEPTIBILITY IN A

作　　者：张莹[1] 程桦[1] 傅祖植[1] 谭定定[2] 李洪义[3] 严棠 

机构地区：[1]中山医科大学附属孙逸仙纪念医院,广州510120 [2]中山医科大学中心实验室分子生物室 [3]中山医科大学遗传教研室

出　　处：《中华内分泌代谢杂志》1996年第2期74-77,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：采用4个序列特异的寡核苷酸探针检测了40例华南地区汉族IDDM患者（包括14岁前发病者8例,15～30岁发病者19例,31岁后发病者13例）及51例华南地区汉族健康对照的 HLA DQA_1基因。结果显示:14岁前发病IDDM组DQA_1 52Arg（+）频率显著高于对照组、15～30岁发病组和31岁后发病组;DQA_1 52Arg（+）/Arg（+）频率显著高于31岁后发病组。IDDM患者中存在发病年龄越小,52Arg（+）、Arg（+）/Arg（+）及DQA_1 0301频率越高,Arg（+）/Arg（-）频率越低的现象。提示14岁前发病ID-DM易感性与HLA DQA_1 52Arg（+）呈正相关。易感因素作用强可能为IDDM早发的原因之一。发病年龄大的IDDM遗传易感性可能主要由DQA_1 52Arg（+）外的其他基因所决定。IDDM患者中可能存在不同遗传学类型。The HLA DQA1 genes of 40 IDDM patients (including 8 cases with onset of diabetes before 14 years of age, 19 between 15-30 years and 13 after 31 years) and 51 healthy controls were studied by using for allele specific oligonucleotide probes. All of our research subjects are of Southern Chinese origin. The results showed that the HLA DQA1 52Arg(+) associated IDDM susceptibility is significantly higher in the group younger than 14 years of age (P<0. 05, RR=5. 98). Among IDDM patients , the younger the age of onset the higher the frequencies of HLA DQA1 52Arg( + ) , Arg( + )/Arg ( +) homozygote and DQA1 0301 genotype and the lower the frequencies of DQA1 Arg( + )/Arg(-) heterozygote. Strong predisposing factors like DQA1 52Arg ( + ) and / or other susceptibility genes linked to HLA DQA1 52Arg(+) may trigger an earlier disease in life. The genetic susceptibility of those with late onset of the disease may mainly relate to genes other than HLA DQA1 52Arg( + ). In addition, the genetic basis between early and late onset IDDM patients may be different.

关 键 词：精氨酸 糖尿病 人白细胞抗原 

分 类 号：R587.102[医药卫生—内分泌]