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运用聚合酶链反应及单链构型多态性技术分析52例Ⅱ型糖尿病(NIDDM)者及54例正常对照组胰岛素受体基因第17及20外显子的变异。结果显示:外显子17的1008位GGC-GGT多态性频率在NIDDM组为29.4%,而在正常对照组为9.07%(χ2=10.02,P<0.005)。外显子20的1169位甘氨酸多态性GGT→GGC在NIDDM与正常对照组的频率分别为15.4%和3.7%(χ2=4.370,P<0.05)。上述结果显示:1008位及1169位多态性可能是中国人群NIDDM的发病危险因素
The variations of exon 17 and exon 17 of insulin receptor gene in 52 cases with type 2 diabetes mellitus (NIDDM) and 54 normal controls were analyzed by polymerase chain reaction and single strand conformation polymorphism. The results showed that the GGC-GGT polymorphism at exon 17 was 29.4% in the NIDDM group and 9.07% in the normal control group (χ2 = 10.02, P <0.005). The 1169 glycine polymorphism GGT → GGC in exon 20 was 15.4% and 3.7% respectively in NIDDM and normal controls (χ2 = 4.370, P <0.05). The above results show that: 1008 and 1169 polymorphisms may be the risk factors of NIDDM in Chinese population