载脂蛋白AI-CⅢ基因多态性及单倍型与非胰岛素依赖型糖尿病的关系  

A study on the polymorphisms and haplotypes at the apoAI-c Ⅲ gene cluster from the patients with NIDDM

作　　者：张巾超[1] 于云霞[1] 吴国亭[1] 刘丽娜[1] 李孟兰[1] 谭宁[1] 白风兰 

机构地区：[1]哈尔滨医科大学附属第二医院内分泌科,邮政编码150086

出　　处：《中国糖尿病杂志》1993年第1期26-28,共3页Chinese Journal of Diabetes

摘　　要：以载脂蛋白ApoAI(cDNA,1.0kb)片段为探针,对50例正常汉族个体(对照组)、45例非胰岛素依鞍型糖尿病(NIDDM)及30例NIDDM伴高甘油三脂(TG)血症患者的ApAl-C Ⅲ基因区域DNA多态性频率及其特征进行了分析,结果表明中国汉族人群也存在S_2、M_2突变位点。NIDDM组M_1M_1基因型占62％,显著高于对照组(42％);NIDDM伴高TG组基因型S_2S_2和M_2M_2均占10％,而对照组为0,该组S_2-M_2单倍型者共13例(43％),与对照组相比(7例,14％)有显著性差异,提示该单倍型与NIDDM伴高TG血症相关联。The polymorphisms and haplotypes identified by restriction fragment length polymorphisms (RFLPs) at the apolipoprotein A1-C3 gene cluster (ApoAl-C3) were studied in 75 Han-nationality-Chinese patients with NIDDM, 30 of which were complicated with hypertriglyceridemia. Fifty unrelated healthy subjects matched for age and body weight were chosen as controls. The results showed that after the RFLPs hydrolyzed by the restriction endonucleases SstI and MspI were hybridized with the human ApoAl gene cDNA fragment(l. 0 kb),S2 and M2 tnutational sites consistent with other reports were found . Significant frequency difference in genotype M1M1 was observed between the simple NIDDM and control group(62% vs 42%). In the NIDDM with hypertriglyceridemia group,both of the S2S2 and M2M2 genotypes had a frequency of 10% and the haplotype S2-M2 had a higher frequency than that in controls. This suggests the association of S2M2 haplotype with NIDDM complicated by hypertriglyceridemia.

关 键 词：糖尿病 基因 脱氧核糖核酸 多态现象 

分 类 号：R587.1[医药卫生—内分泌]