A Z, Zhang S, Xiao C, Li W, Hou Y, Zhu J, Wang J
Department of Medical Genetics, the First Affliated Hospital, West China University of Medical Sciences, Chengdu, Sichuan, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):248-51.
To obtain the polymorphic data of short tandem repeat(STR) loci of D15S657, D11S1369, D6S2420 and D6S503 in Chinese Han population and to study the association of these four STR loci with insulin-dependent diabetes mellitus(IDDM).
The polymorphisms of the four STRs were studied by polymerase chain reaction-polyacrylamide gel electrophoresis(PCR-PAGE) followed by direct sequencing of PCR products in 105 normal Chinese Hans and 48 patients with IDDM.
Seven alleles at D15S657 locus, 5 alleles at D11S1369 locus, 7 alleles at D6S2420 locus and 4 alleles at D6S503 locus were found. No deviation from Hardy-Weinberg equilibrium was observed. The heterozygosities of these loci were 0. 7524, 0.6000, 0.6286, 0.6571 and the polymorphic information contents(PIC) 0.7616, 0.4430, 0.5345 and 0.5932, respectively. The allele frequencies of allele A(5) at D15S657 locus, allele A(5) at D11S1369 locus and allele A(4) at D6S2420 locus were increased significantly in patients with IDDM, compared to those in the control group.
The four STRs, used as genetic markers, were suitable for case-control study, forensic medicine identification and population genetic study. There is an association between the polymorphisms of D15S657, D11S1369, D6S2420 and IDDM.
获取中国汉族人群中D15S657、D11S1369、D6S2420和D6S503短串联重复序列（STR）位点的多态性数据，并研究这四个STR位点与胰岛素依赖型糖尿病（IDDM）的相关性。
采用聚合酶链反应-聚丙烯酰胺凝胶电泳（PCR-PAGE）技术对105名正常中国汉族人和48名IDDM患者进行这四个STR的多态性研究，并对PCR产物进行直接测序。
在D15S657位点发现7个等位基因，在D11S1369位点发现5个等位基因，在D6S2420位点发现7个等位基因，在D6S503位点发现4个等位基因。未观察到偏离哈迪-温伯格平衡的情况。这些位点的杂合度分别为0.7524、0.6000、0.6286、0.6571，多态信息含量（PIC）分别为0.7616、0.4430、0.5345和0.5932。与对照组相比，IDDM患者中D15S657位点的A(5)等位基因、D11S1369位点的A(5)等位基因和D6S2420位点的A(4)等位基因频率显著增加。
这四个STR作为遗传标记，适用于病例对照研究、法医学鉴定和群体遗传学研究。D15S657、D11S1369、D6S2420的多态性与IDDM之间存在关联。
