CAJ | 학술논문

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。
목적：초보탐토모친동형반광안산대사매광류미β-합매（CBS）기인C770T기인돌변여자대선천성심장병（CHD）발생적관계。방법운용등위기인확증기술검측62대CHD환인（병례조）급기생물학모친C770T기인형，병차여62대건강인동（대조조）급기생물학모친C770T기인형대비。결과 CBS C770T산생C/C급C/T량충기인형，병례조모친적C/C급C/T기인형빈솔분별위45．16％화54．84％，C화T등위기인빈솔분별위72．58％화27．42％；대조조모친적C/C형、C/T형、C급T등위기인빈솔분별위59．68％、40．32％、79．84％급20．16％，량조모친적기인형빈솔급등위기인빈솔분포비교，차이균무통계학의의（P＞0．05）；차외，병례조C/C형、C/T형화T등위기인빈솔분별위43．55％、56．45％화28．23％，대조조분별위58．06％、41．94％급29．03％，량조C/C형、C/T형급T등위기인빈솔분포비교，차이균무통계학의의（P＞0．05）。결론재엄서인군중，모친CBS C770T기인돌변여자대CHD무명현상관성，모친C770T돌변가능불족이구성자대CHD적독립유전위험인소。
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 .