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[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 analyze the gene polymorphism of CBST833C and CBSG919A in cystathionine β-synthase (CBS) to understand its distribution in Changzhi population. [Method] The gene mutation polymorphism of CBST833C and CBSG919A was analyzed by using the method of amplification blockade mutation system. [Results] The frequencies of genotypes of CBST833C in male and female groups were significantly different by chi-square test (χ2 = 7.080, P <0.05). The frequencies of T and C alleles in male and female were statistically significant (χ2 = 3.977, P <0.05). There was no significant difference in the frequency of CBSG919A genotype between male and female subjects by chi-square test (χ2 = 4.060, P> 0.05). There was no significant difference in the frequencies of G and A alleles between male and female subjects (χ2 = 1.184, P> 0.05). The frequencies of CBST833C and CBSG919A genotypes were all in Hardy-Weinberg equilibrium in male and female population in Changzhi area. [Conclusion] The experimental data can provide genetic data for the hypothesis of the etiology of CBS mutation and homocysteine metabolism.