胱硫醚β合酶基因多态性在长治人群中的分布  

STUDY ON POLYMORPHISM OF CYSTATHIONINE BETA-SYNTHASE IN CHANGZHI POPULATION

作　　者：陈云霞[1] 武延隽[1] 程红兵[1] 张雄鹰[1] 

机构地区：[1]山西省长治医学院微生物学教研室,长治046000

出　　处：《现代预防医学》2011年第15期3070-3072,共3页Modern Preventive Medicine

基　　金：山西高校科技研究开发项目(20091134)

摘　　要：[目的]对胱硫醚β合酶(CBS)的CBST833C、CBSG919A两个基因位点的基因多态性进行分析,了解其在长治地区人群中的分布情况。[方法]采用扩增阻碍突变系统法对CBST833C、CBSG919A进行基因多态性分析。[结果]男、女性人群CBST833C基因型频率经卡方检验差异具有统计学意义(χ2=7.080,P﹤0.05);男、女性人群T、C等位基因频率经卡方检验差异具有统计学意义(χ2=3.977,P﹤0.05)。男、女性人群CBSG919A基因型频率经卡方检验差异无统计学意义(χ2=4.060,P﹥0.05);男、女性人群G、A等位基因频率经卡方检验差异无统计学意义(χ2=1.184,P﹥0.05)。CBST833C、CBSG919A基因型频率在长治地区男性人群、女性人群中均符合Hardy-Weinberg平衡。[结论]试验数据可为CBS基因突变与同型半胱氨酸代谢相关疾病病因研究假设提供遗传学数据。[Objective]To study the genotype and allele frequency of cystathionine beta-synthase（CBS）in Changzhi population.[Methods]The genotypes of CBST833C and CBSG919A were detected by amplification refractory mutation system（ARMS）on 152 blood spot DNA from the normal subjects.[Results]The frequency of TT,TC and CC in CBST833C was 25.68%,51.35% and 22.97% in males,and it was 11.54%,50.00% and 38.46% in females,the difference was significant in CBST833C genotype between males and females（P﹤0.05）,that was so in the allele frequency of T and C（P﹤0.05）;and the frequency of GG,GA and AA in CBSG919A was 21.62%,60.81% and 17.57% in males,and it was 12.82%,57.69% and 29.49% in females,the difference was not significant in CBSG919A genotype between males and females（P﹥0.05）,that was so in the allele frequency of G and A（P﹥0.05）. The genotypic frequencies of CBST833C and CBSG919A were not deviated from Hardy-Weinberg equilibrium.[Conclusion]These genetic epidemiological data are useful for study of etiological hypothesis between CBS and diseases related to homocysteine metabolism.

关 键 词：胱硫醚Β合酶 扩增阻碍突变系统 基因多态性 

分 类 号：R34[医药卫生—基础医学]