胱硫醚β-合酶基因C770T基因突变与先天性心脏病的相关性研究  

Correlation of cystathionine β-synthase gene mutation and congenital heart defects

作　　者：卢继芳 王兆康 刘振玲[2] 覃耀明[3] 

机构地区：[1]广西壮族自治区南宁市宾阳县人民医院儿科,530405 [2]广西壮族自治区人民医院儿科,南宁530021 [3]广西壮族自治区妇幼保健院儿科,南宁530003

出　　处：《检验医学与临床》2014年第10期1344-1346,共3页Laboratory Medicine and Clinic

摘　　要：目的初步探讨母亲同型半胱氨酸代谢酶胱硫醚β-合酶(CBS)基因C770T基因突变与子代先天性心脏病(CHD)发生的关系。方法运用等位基因扩增技术检测62对CHD患儿(病例组)及其生物学母亲C770T基因型,并且与62对健康儿童(对照组)及其生物学母亲C770T基因型对比。结果 CBS C770T产生C/C及C/T两种基因型,病例组母亲的C/C及C/T基因型频率分别为45.16%和54.84%,C和T等位基因频率分别为72.58%和27.42%;对照组母亲的C/C型、C/T型、C及T等位基因频率分别为59.68%、40.32%、79.84%及20.16%,两组母亲的基因型频率及等位基因频率分布比较,差异均无统计学意义(P>0.05);此外,病例组C/C型、C/T型和T等位基因频率分别为43.55%、56.45%和28.23%,对照组分别为58.06%、41.94%及29.03%,两组C/C型、C/T型及T等位基因频率分布比较,差异均无统计学意义(P>0.05)。结论在广西人群中,母亲CBS C770T基因突变与子代CHD无明显相关性,母亲C770T突变可能不足以构成子代CHD的独立遗传危险因素。Objective To explore the correlation of maternal cystathionine β-synthase （CBS） gene C770T mu-tation and occurrence of congenital heart disease （CHD） in offspring .Methods A total of 62 CHD children and their mothers were detected for the C770T genotypes by the polymerase chain reaction ,and 62 healthy children and their mothers were enrolled as control group .Results For the mothers of CHD children ,the frequency of C/C was ac-counted for 45 .16% ,and C/T for 54 .84% .However ,the proportion of C/C and C/T were 59 .68% and 40 .32% re-spectively among the mothers of healthy children .Meanwhile ,the frequency of C/T and T alleles were 56 .45% and 28 .23% respectively among CHD children ,and 41 .94% and 29 .03% respectively among healthy children .The fre-quency of genotypes and T alleles were not significantly different between the two groups （P〉0 .05） .Conclusion There might be not significant correlation between C770T mutation in mothers and CHD of offspring .CBS C770T mutation in mothers could not be independent risk factor for CHD of offspring in population of Guangxi .

关 键 词：胱硫醚Β-合酶 先天性心脏病 同型半胱氨酸 基因 

分 类 号：R541.4[医药卫生—心血管疾病]