分别携带β珠蛋白基因CD41-42(—TCTT)和CD43(G→T)突变夫妇的产前诊断结果分析

摘要

目的 为两对双方分别携带β珠蛋白基因CD41-42(—TCTT)和CD43(G→T)杂合突变的夫妇提供产前诊断,明确其胎儿的基因型.方法 应用反向斑点杂交法(两种试剂盒)、多色探针熔解曲线法和DNA序列分析法同时检测β珠蛋白基因的突变.结果 家系1胎儿3种方法的检测结果均显示其为CD43(G→T)突变杂合子;家系2胎儿多色探针熔解曲线结果和DNA序列分析结果均提示为CD41-42(—TCTT)和CD43(G→T)突变双重杂合子,而反向斑点杂交法两种试剂盒产生了不一致的结果,一种为CD41-42(—TCTT)和CD43(G→T)突变双重杂合子,而另一种为CD41-42(—TCTT)突变纯合子.结论 对携带β珠蛋白基因CD41-42(—TCTT)和CD43(G→T)突变的夫妇进行产前诊断应采用其他可避免误诊的手段,如直接测序等.%Objective To provide prenatal diagnosis for two couples who respectively carried heterozygous CD41-42 (—TCTT) and CD43 (G→T) mutations of the β hemoglobin gene.Methods The mutations were simultaneously detected with reverse dot blot (two diagnostic kits),multi-color melting curve analysis and sequencing analysis.Results The fetus of family 1 was shown to be heterozygous for CD43 (G→T) by the three methods,while the fetus of family 2 was shown to be double heterozygous for CD41-42 (—TCTT) and CD43 (G→T) by multi-color melting curve analysis and sequencing analysis.The two diagnostic kits yielded different results by reverse dot blot,one as double heterozygous for CD41-42 (—TCTT) and CD43 (G→T),and another as homozygous for CD41-42 (— TCTT).Conclusion For prenatal diagnosis of couples carrying mutations of β hemoglobin gene such as CD41-42 (— TCTT) and CD43 (G→T),other methods such as Sanger sequencing should be used in order to avoid misdiagnosis.