[Microsatellite polymorphism of muscle glycogen synthase gene and non-insulin dependent diabetes mellitus].

T Nakayama, Y Tanuma, M Soma, K Kanmatsuse, M Owada, H Nakabayashi, M Esumi
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Abstract

It has been reported recently that A2 allele of muscle glycogen synthase gene determined by Xba I RFLP (restriction fragment length polymorphism) is related to the frequency of NIDDM in Finland. Using PCR-RFLP analysis, we detected no A2 allele in Japanese patients with NIDDM and control. We found a new microsatellite of CA repeat in the human muscle glycogen synthase gene, and the polymorphism of the repeat number was detected by the polymerase chain reaction. Six different alleles were observed, indicating the highly polymorphic nature of this marker. We analyzed the repeat numbers and the genotypes in diabetics and control. The allele frequencies were not significantly different between NIDDM and control. However, the allele frequencies in the patients without high total cholesterolemia was significantly different from those of control. These findings suggest that the muscle glycogen synthase gene or neighboring genes are related to one of the disease genes of diabetes mellitus without high total cholesterolemia.

肌糖原合成酶基因微卫星多态性与非胰岛素依赖型糖尿病[j]。
最近有报道称,通过Xba I限制性片段长度多态性(限制性片段长度多态性)测定的肌糖原合成酶基因A2等位基因与芬兰NIDDM的发病频率有关。通过PCR-RFLP分析,我们在日本NIDDM患者和对照组中未检测到A2等位基因。我们在人肌糖原合成酶基因中发现了一个新的CA重复序列微卫星,并通过聚合酶链反应检测了重复序列数目的多态性。观察到6个不同的等位基因,表明该标记具有高度多态性。我们分析了糖尿病患者和对照组的重复数和基因型。NIDDM与对照间等位基因频率无显著差异。然而,非高总胆固醇血症患者的等位基因频率与对照组有显著差异。提示肌糖原合酶基因或邻近基因与非高总胆固醇血症型糖尿病的一种疾病基因有关。
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