中国西南地区汉族人群NOS2基因(CCTTT)n微卫星多态性研究

The (CCTTT)n microsatellite polymorphism of NOS2 gene in Han nationality in the southwest of China

目的 :探讨NOS2基因 (CCTTT)n微卫星多态性在中国西南地区汉族人群中的分布 ,并比较不同种族及同一种族但不同地域人群基因频率的差异。方法 :柱层析法提取血细胞基因组DNA ,应用PCR、PAGE及银染和DNA测序技术 ,对 2 0 5例中国西南地区汉族人进行了NOS2基因多态性分析。结果 :(1)共检出 9种等位基因和 30种基因型。 (2 ) (CCTTT) 9、(CCTTT) 10 、(CCTTT) 12 、(CCTTT) 13 等位基因频率在中国西南地区与华北地区汉族人群间差异有显著性。 (3) (CCTTT) 9、(CCTTT) 10 、(CCTTT) 11、(CCTTT) 15、(CCTTT) 16等位基因频率在中国西南地区汉族人群与英国高加索人群间差异有显著性。结论 :NOS2基因 (CCTTT)n微卫星多态性在不同种族间存在差异 ,在同一种族不同地区也存在着差异 。

Objective:To investigate genotypes and alleles' distributions of inducible nitric oxide synthase (NOS2) gene (CCTTT)n polymorphism in Han nationality in the southwest of China,and make comparisons with different race or the same race in different areas.Methods:The (CCTTT)n polymorphisms of NOS2 gene were analyzed in a total of 205 southwestern Chinese healthy subjects by polymerase chain reaction (PCR)-8% denature polyacrylamide gel electrophoresis(PAGE)-silver staining and DNA sequencing.Results:(1)Nine alleles and thirty genotypes were identified.(2)(CCTTT) 9,(CCTTT) 10 ,(CCTTT) 12 ,(CCTTT) 13 alleles frequencies of NOS2 gene in Chinese Han population in southwestern area differed significantly from those in northern area.(3)(CCTTT) 9,(CCTTT) 10 ,(CCTTT) 11 ,(CCTTT) 15 ,(CCTTT) 16 alleles frequencies of NOS2 gene in Han population of the southwest of China differed significantly from those of Caucasians in England.Conclusion:The (CCTTT)n microsatellite polymorphisms of NOS2 gene are different not only among different ethnic populations but also within the same population of different areas, which may be of significance in the studies on relationship between genetics and disease.