重庆医学Issue(31)：3744-3746,3749,4.DOI:10.3969/j.issn.1671-8348.2013.31.008
我国广西人群CRYAB基因rs3212227与rs6894567遗传多态性研究
Genetic polymorphism of CRYAB gene rs3212227 and rs6894567 in Chinese guangxi populations
摘要
Abstract
Objective To study the frequencies of allele and genotype distribution of alpha-B-crystallin (CRYAB ) gene rs3212227 and rs6894567 single nucleotide polymorphism (SNP) in Chinese guangxi populations ,and to Compare the distribution differences among different ethnic .Methods The CRYAB gene rs3212227 and rs6894567 polymorphisms were detected by the pol-ymerase chain reaction-single base extension (PCR-SBE) technique and DNA sequencing methods in 199 Chinese guangxi popula-tions ,frequencies of allele and genotype of CRYAB gene SNP loci ,rs3212227、rs6894567 were analyzed in guangxi populations com-pared with other the four populations (HapMap-CEU ,HapMap-YRI ,HapMap-JPT and HapMap-HCB) from Human Genome Pro-ject group (Hapmap) data .Results There were CRYAB gene polymorphisms in Guangxi populations .The frequencies of allele and genotype distribution of CRYAB gene rs3212227、rs6894567 polymorphisms had significant difference compared with HapMap-CEU and HapMap-YRI populations (P<0 .05) ,and had no significant difference compared with HapMap-JPT and HapMap-HCB (P>0 .05) .Conclusion The frequencies of allele and genotype distribution of CRYAB gene rs3212227、rs6894567 polymorphisms are significantly difference compared with others ethnic populations ,and this variation might account for a variety of clinical mani-festation and morbidity of of some CRYAB related diseases .关键词
CRYAB基因/单核苷酸多态性/种族Key words
CRYAB gene/single nucleotide polymorphism/ethnic引用本文复制引用
王俊利,元辉雄,韦贵将,王春芳,罗春英,韦叶生,黄照权..我国广西人群CRYAB基因rs3212227与rs6894567遗传多态性研究[J].重庆医学,2013,(31):3744-3746,3749,4.基金项目
广西自然科学基金资助项目（2012GXNSFBA053121）；广西卫生厅医疗卫生重点科研课题资助项目（重2010057）。 （）
