陕西省汉族人群GRPR基因第2外显子2个SNP位点分析

目的 探讨我国汉族人群GRPR基因第2外显子1106T/C及1316T/C单核苷酸多态性分布的特征及种群间的遗传差异.方法 采用PCR及DNA测序方法,检测150例无血缘关系的中国陕西省汉族个体GRPR的基因频率以及基因型频率.结果 陕西汉族人群GRPR基因1106T/C及1316T/C位点T和C的基因频率均分别为92%和8%,而基因型频率T/T、T/C以及C/C均分别为88.67%、6.67%和4.67%;基因频率以及基因型频率的分布不符合Hardy-Weinberg平衡定律,P＜0.001;两个SNP位点的杂合度和多态信息量均较低,但其基因频率、基因型频率的分布与欧洲和非洲人种比较,差异具有统计学意义,P＜0.01;而与日本人群比较差异无统计学意义,P=0.562;GRPR基因1106T/C及1316T/C位点之间存在连锁不平衡,P＜0.001.结论 获得了陕西汉族人群GRPR基因第2外显子1106T/C及1316T/C的等位基因分布数据,且由于其基因频率具有种族间差异,提示可以用于人类学研究.

The Study about Two SNP Site Polymorphism of the Secondary Extron of GRPR Gene in the Han Nationality of Shanxi Province in China

Objective To study the polymorphism and heredity differences of site 1106T/C and 1316T/C in the secondary extron of the GRPR gene in Han nationality. Methods The PCR and DNA sequencing methods were used to analyze the genotype of 150 Han nationality in Shanxi without any blood relationship. Results The gene frequencies of T and C were 92% and 8% espectively,both in site 1106T/C and 1316T/C of the GRPR gene in Han nationality. The genotype frequencies of T/T,T/C and C/C were 88.67%,6.67% and 4.67% respectively. In the genetic equilibrium test,P＜0.001,the distribution was not in accordance with the Hardy-Weinberg equilibrium. The heterozygosities and polymorphism information contents were ery low for these two SNP sites. There were a great differences in gene and genotype frequency among the European,African and Chinese (P＜0.01 ). But compared to Japanese,no significant difference was found(P =0.562). The two SNP sites weren't in linkage equilibrium(P＜0.001) in the linkage equilibrium test. Conclusion Essential polymorphic nformation about Site 1106T/C and 1316T/C in the se condary extron of the GRPR gene in Han nationality was acquired for further scientific research. In addition,the differences of gene frequencies between races indicated that they could be used in the humanics analysis.