目的 检测中国广西西部人群αB-晶状体蛋白(CRYAB)基因rs14133 G/C和rs2070894 G/A位点多态性,并探讨中国广西西部人群αB-晶状体蛋白基因多态性与其他4个种族人群的差异.方法 通过聚合酶链式反应结合单碱基延伸技术和DNA测序方法检测199名广西西部健康人CRYAB基因rs14133 G/C和rs2070894 G/A位点基因型,并与国际人类基因组单倍型图谱计划公布的欧洲人、非洲人、日本人、中国北京人的CRYAB基因多态性进行对比.结果 在199名广西西部健康人中,男女性组间CRYAB基因rs14133 G/C位点、rs2070894 G/A位点的基因型和等位基因型频率比较,差异无统计学意义(P＞0.05).中国广西西部人群和欧洲人相比,CRYAB基因rs14133 G/C和rs2070894 G/A位点基因型和等位基因型频率比较,差异有统计学意义(P＜0.05);与非洲人、日本人、中国北京人相比,差异无统计学意义(P＞0.05).结论 CRYAB基因多态性分布具有种群和地域差异,这种差异可能是相同疾病在不同人群中临床表现不同的原因之一.%Objective To investigate the rsl4133 G/C and rs2070894 G/A polymorphisms of αB-crystallin ( CRYAB ) gene among population in Western Guangxi,and to compare the distribution of CRYAB gene polymorphisms in different races. Methods The rsl4133 G/C and rs2070894 G/A polymorphisms of CRYAB gene in 199 healthy persons in Western Guangxi were detected by polymerase chain reaction coupled with single nucleotide extension and DNA sequencing technology, which were compared with the polymorphisms of CRYAB gene in the other four populations( CEU, YRI, JPT, HCB ) from Hapmap database. Results In 199 healthy persons in Western Guangxi ,the frequencies of genotype and allele of CRYAB gene rsl4133 G/C and rs2070894 G/A polymorphisms were not significantly different between male and female groups( P > 0. 05 ). The frequencies of allele and genotype distribution of CRYAB gene rsl4133 G/C and rs2070894 G/A polymorphisms among population in Western Guangxi were significantly different compared with those of CEU( P < 0. 05 ), and were not significantly different compared with YRI JPT and HCB( P >0.05 ). Conclusion The distribution of CRYAB gene polymorphisms is attributable to regional and ethnic differences, which may account for the different clinical symptoms of the same diseases in different races.
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