摘要
目的探讨红细胞补体受体I型(CR1)基因单核苷酸多态性(SNP)在广西百色地区壮族人群中的分布频率以及其在不同种族间分布的差异。方法用TaqMan荧光探针定量PCR和DNA测序技术检测503例壮族人群CR1基因rs2296160 C/T、rs2274567 G/A和rs4844600 G/A位点,并结合人类基因组计划公布的欧洲人、非洲人、日本人和北京人群的SNP分型数据,比较分析各人群的基因型及等位基因的分布频率。结果广西壮族人群中CR1基因rs2296160 C/T、rs2274567 G/A和rs4844600 G/A位点存在多态性,3个位点基因型频率在男女性别间比较,P分别为0.591、0.293和0.525;而等位基因分布频率在男女性别间比较,P分别为0.310、0.122和0.268,差异均无统计学意义(P>0.05)。rs2296160 C/T、rs2274567 G/A和rs4844600 G/A 3个位点的基因型和等位基因分布频率与欧洲和非洲人群比较,差异均有统计学意义(P均<0.05);而与日本人及北京人比较,差异无统计学意义(P>0.05)。结论广西百色地区壮族人群中存在CR1基因多态性,与欧洲及非洲人群比较存在显著性差异,为人类学及群体遗传学研究提供了实验数据。
Objective To investigate the frequencies of allele and genotype distribution and the distribution in different races of eryth- roeyte complement receptor 1 （CR1） gene single nucleotide polymorphism in Guangxi Baise Chuang population. Methods The CR1 gene rs2296160 C/T, rs2274567 G/A and rs4844600 G/A polymorphisms in 503 Chuang persons were examined by the quantitative RT-PCR with TaqMan probes and DNA sequencing. Then, the frequencies of the CR1 alleles and genotypes were compared with those in European, African, Japanese and Beijing Chinese from Human Genome Project. Results The CR1 gene rs2296160 C/T, rs2274567 G/A and rs4844600 G/A polymorphisms existed in Guangxi Baise Chuang population. Moreover, there were no any signifi- cant differences of CR1 genotype and allele frequency distributions between males and females （ P 〉 0.05 ）. However, the frequencies of the CR1 genotype and allele distribution were significantly different from those in European and African （ P 〈 0.05 ）, but similar to those in Japanese and Beijing Chinese （ P 〉 0.05 ）. Conclusion There exist CR1 gene polymorphisms significantly different from those in European and African in Guangxi Baise Chuang population, which provides some experimental data for studying anthropology and population genetics.
出处
《临床检验杂志》
CAS
CSCD
北大核心
2014年第3期207-211,共5页
Chinese Journal of Clinical Laboratory Science
基金
国家自然科学基金(81160212)
广西卫生厅重点课题(重200986)
关键词
红细胞补体受体I型
单核苷酸多态性
广西壮族
erythrocyte complement receptor 1
single nucleotide polymorphism
Guangxi Chuang population
