摘要
目的 :探讨内皮细胞型一氧化氮合酶 (eNOS)基因 (CA)n二核苷酸重复序列基因多态性在中国汉族人群中的分布。方法 :应用聚合酶链反应结合聚丙烯酰胺凝胶电泳和硝酸银染色 ,对 2 91名中国汉族人的eNOS基因 (CA)n多态性进行研究。结果 :eNOS基因 (CA)n存在 2 3种等位基因和 93种基因型 ,基因型分布符合Hardy -Weinberg平衡 (P >0 .0 5 )。PCR扩增片段长度范围为 14 4bp～ 188bp ,所含CA重复次数分别为 19～ 4 1,分布频率介于 0 .34%～ 14 .1%。该位点杂合度为 0 .85 ,多态信息量 (PIC)为 0 .83。中国人群与高加索人群差异显著的 11个等位基因分别为 (CA) 2 2 、(CA) 2 3 、(CA) 2 6、(CA) 2 7、(CA) 2 8、(CA) 3 0 、(CA) 3 1、(CA) 3 2 、(CA) 3 3 、(CA) 3 4 、(CA) 3 5,χ2 检验P均 <0 .0 5。结论 :该基因位点是 1个含有高度遗传信息的DNA标志 。
Objective:To explore the distribution of the (CA) n dinucleotide repeats polymorphism of the endothelial nitric oxide synthase (eNOS) gene in Chinese han nationality.Methods:(CA) n repeats polymorphism of the endothelial nitric oxide synthase (eNOS) gene from 291 Chinese healthy subjects were analyzed by polymerase chain reaction(PCR)-denature polyacrylamide gel electrophoresis (PAGE)-silver stain.Results:Ninety-three genotypes and twenty-three different alleles were identified in 291 Chinese healthy subjects.The distribution of genotypes was in accordance with the Hardy-Weinberg equilibrium( P >0.05).The size of PCR fragments ranged from 144 to 188bp containing 19～41 CA repeats and the frequency of (CA)n ranged from 0.34%～14.1%.The heterozygosity(H) and polymorphism information content(PIC) were 0.85 and 0.83 respectively.Significant differences were found in frequencies of eleven alleles including 22-repeats,23-repeats,26-repeats,27-repeats,28-repeats,30-repeats,31-repeats,32-repeats,33-repeats,34-repeats and 35-repeats between Chinese and Caucasians.Conclusion:This site is referred to as a genetic marker with high polymorphism information content.And the distribution of this genetic marker is different in different ethnic groups.
出处
《重庆医科大学学报》
CAS
CSCD
2004年第3期279-283,共5页
Journal of Chongqing Medical University
基金
重庆市教委资助项目 (编号 :1999
16-5 )
