新疆维吾尔族早发2型糖尿病GCK基因多态性分析

The microsalellite polymorphism of glucokinase gene with early-onset diabetes mellitus in Uigur minority of Xinjiang

目的:研究新疆维吾尔族早发2型糖尿病葡萄糖激酶(GCK)基因多态性,并获得GCK基因频率在新疆维吾尔族人群中的分布规律。方法:运用聚合酶链反应—短串联重复序列(STR)的方法,检测新疆和田地区维吾尔族早发2型糖尿病家系成员49例和同一地区无血缘关系的正常对照组人群88例的GCK基因型。结果:①88例正常对照组人群中共检测出4种GCK基因9509/9510遗传标志多态性位点,分别为203bp2、01bp、199bp、197bp,等位基因的频率分别为0.18、0.43、0.24、0.15,其杂合度H为0.7026,多态信息含量PIC为0.667。②新疆和田地区维吾尔族早发2型糖尿病家系成员49例GCK基因9509/9510多态性位点分析表明,199bp等位基因是该家系的主要遗传等位片段。③比较GCK基因座在新疆维吾尔族人群与黑人、欧洲人、北美人群的分布,发现存在明显的种族差异。结论:新疆维吾尔族人群GCK基因9509/9510遗传标志位点存在多态性,其杂合性较高,是一种高度多态性的较理想的DNA多态性遗传性标记;199bp等位基因是新疆和田地区维吾尔族早发2型糖尿病家系的主要遗传等位片段。

Objective： To investigate the microsalellite polymorphism of glucokinase gene with early- onset diabetes meUitus in Uigur minority of Xinjiang, and obtain the distribute principle of the GCK genc frequency in Uigur minority of Xinjiang. Method： The studied population consisted of 49 members in the Uigur minority family with early- onset diabetes mellitus in Xinjiang Hetian and 88 healthy unrelated controls in the same areas. Polymerase chain reaction - short tandem repeated sequence were used to identify GCK genotypes. Result： （1）Four kinds of microsalellite polymorphism alleles of GCK were identified totally in 88 normal matched controls. The segment lengths of the alleles were 203 bp,201 bp,199 bp, 197 bp, and the frequency were 0.18,0.43,0. 24 and 0.15. The heterogeneity and the polymorphism information content were 0. 7026 and 0.667. （2）The primary segment length of 199 bp of the GCX 9509/9510 microsalellile polymorphism site were passed from generation to generation with 49 members in the Uigur minority family with early - onset diabetes meUitus in Xinjiang Hetian. （3）The obvious race difference were detected in the GCK 9509/9510 microsalellite polymorphism site in Uigur minority of Xinjiang , comparing with the Black, the European, and the North American.Conclustion：The GCK 9509/9510 microsalellite marking were an ideal DNA heredity marking due to its altitudinal polymorphous and high heterozygosity ; The segment length of 199 bp of the GCK 9509/9510 microsalellite polymorphism site were primary heredity allele with 49 members in the Uigur minority family with early - onset diabetes mellitus in Xinjiang Hetian.