摘要
背景与目的:探讨父母胱硫醚β合酶基因(Cystathioninebetasynthase,CBS)多态性对后代发生先天性心脏病(Congenitalheartdisease,CHD)的影响。材料与方法:根据辽宁省出生缺陷登记卡选择127名CHD患者及其生物学父母作为病例组。在同一地区选取129名正常人及其生物学父母作为对照组。采用PCR_RFLP方法检测CBSG919A位点的基因多态性。结果:病例组和对照组父母基因型分布和等位基因频率差异具有统计学意义。与野生基因型携带者相比较,突变杂合和突变纯合基因型携带者的子代罹患CHD的OR值为0.46(95%CI:0.31～0.69)。按照不同类型CHD进行进一步分析发现,在房间隔缺损患者的母亲、室间隔缺损患者的母亲、父亲以及其它类型CHD患者的母亲和父亲组中,基因型的分布在病例组和对照组中的差异具有统计学意义。传递不平衡分析未能发现在CHD核心家庭中存在突变位点的传递不平衡现象。结论:父母CBS基因G919A位点的突变可能能够降低后代发生CHD的危险。
BACKGROUND ＆ AIM： To explore the effects of Cystathionine beta synthase （CBS） gene polymorphism in parents on occurrence of congenital heart disease （CHD） in offsprings. MATERIAL AND METHODS： 127 CHD case-parent triads were selected from Liaoning Province as case group, and 129 healthy subjects were simultaneously selected together with their biological parents as control group. For all subjects the polymorphism of CBS gene GglgA locus was examined by ARMS-PCR method. RESULTS： Significant difference was found in genotype distribution and allele frequency between parents of CHD cases and of controls. Compared with wild type genotype, offsprings of mutant heterozygote and homozygote were at higher risk of CHD, with OR 0.46（95%CI： 0.31- 0.69） Further comparison of each type of CHD showed that genotype frequencies in PDA patient, mothers of ASD patients, parents of VSD parents, and patients of other types of CHD were significantly different from their corresponding controls ,The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. CONCLUSION： The CBS gene GglgA mutation of parents might decrease the risk of CHD in offspring.
出处
《癌变．畸变．突变》
CAS
CSCD
2005年第6期332-335,共4页
Carcinogenesis,Teratogenesis & Mutagenesis
基金
国家自然科学基金资助项目(No.30030120
No.30271364)
