中文摘要：

目的研究α-H晶状体蛋白（CRYAB）基因单核苷酸多态性（SNP）位点rs3212227、rs6894567的各基因型和等位基因在广西人群中的分布频率，对比其在不同地区人群间的分布差异。方法采用单碱基延伸的聚合酶链反应（PCR）技术和DNA测序法检测199名我国广西人的CRYAB基因rs3212227、rs6894567位点的多态性，对比国际人类基因组单倍型图谱计划（Hap—map）上欧洲人群、非洲人群、日本人群及我国北京人群的SNP分型数据，分析5个人群的CRYAB基因SNP位点rs3212227、rs6894567的基因型和等位基因频率。结果在我国广西人群中存在cRYAB基因rs3212227、rs6894567多态性，与欧洲和非洲人群相比，CRYAB基因多态性的分布频率差异有统计学意义（P〈0．05）；与日本人群和北京人群比较差异无统计学意义（P〉0．05）。结论cRYAB基因SNP位点rs3212227、rs6894567基因型和等位基因在广西人群中的分布频率与其他地区人群的比较结果存在差异，这种差异可能是导致一些疾病在不同地区间的发病率和临床表现存在差异的因素之一。

英文摘要：

Objective To study the frequencies of allele and genotype distribution of alpha-B-crystallin （CRYAB） gene rs3212227 and rs6894567 single nucleotide polymorpbism （SNP） in Chinese guangxi populations,and to Compare the distribution differences among di[ferent ethnic. Methods The CRYAB gene rs3212227 and rs6894567 pofymorphisms 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.