脂肪分化相关蛋白基因与2型糖尿病相关  

Adipose differentiation-related protein gene is associated with type 2 diabetes

作　　者：吴刚[1] 李果[1] 骆天红[1] 董艳[1] 徐世杰 黄薇 罗敏[1] 

机构地区：[1]上海第二医科大学附属瑞金医院内分泌代谢病科 [2]国家人类基因组南方研究中心

出　　处：《中华内分泌代谢杂志》2004年第4期304-306,共3页Chinese Journal of Endocrinology and Metabolism

基　　金：国家科委973项目(G1998051017)

摘　　要：目的通过单核苷酸多态性(SNP)的检测及基因分型来研究脂肪分化相关蛋白基因(ADRP)与2型糖尿病的相关性。方法使用PCR测序方法,对ADRP基因的启动子、外显子以及临近的内含子,分别在正常人群、2型糖尿病人群进行测序,确定该基因是否与华东地区汉族2型糖尿病患者相关。结果所测ADRP基因片段总长度5003个碱基,有23个SNP,高频、低频分别是5个、18个。启动子的一个SNP(P/-407)在2型糖尿病人群与正常人群的等位基因型、基因型差异均有显著性(P<0.05);两个错义突变Ser251Pro、Thr396Ala分别在两个2型糖尿病家系中传递。结论ADRP可能与华东地区汉族人2型糖尿病相关。Objective To investigate the association of adipose differentiation-related protein (ADRP) genewithtype2diabetesbysinglenucleotidepolymorphism(SNP) detection and genotyping. Methods Sequences of proximal promoters, coding regions (including sequence near splicing site) of ADRP gene was detected by PCR-sequencing in type 2 diabetics and normal controls, who were Chinese Hans residing in east and southeast China. Results The length of ADRP gene fragment assayed was 5003 bp and 23 SNPs were identified which included 5 high frequency SNPs and 18 low frequency SNPs. One SNP (P/-407) located in the promoter of ADRP had significant difference of allele and genotype distributions between type 2 diabetics and controls (both P<0.05). Two mis-sense mutations (Ser251Pro、Thr396Ala) were co-segregated with type 2 diabetes in two pedigrees. Conclusion The ADRP gene may associate with type 2 diabetics in eastern and southeastern Chinese Han population.

关 键 词：2型糖尿病 ADRP 相关蛋白 基因 正常人群 病人 分化 启动子 内含子 碱基 

分 类 号：R587.1[医药卫生—内分泌] R774[医药卫生—内科学]