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  

Analysis of a mistake occurring during prenatal diagnosis of two couples respectively carrying CD41-42 （--TCTT） and CD43 （G→T）mutations of the β hemoglobin gene

作　　者：郝颖 吴维青[1] 蒋妮萍 徐晓昕[1] 尹珊珊[1] 姜楠[1] 徐志勇[1] 蔡筠[1] 谢建生[1] Hao Ying Wu Weiqing Jiang Niping Xu Xiaoxin Yin Shanshan Jiang Nan Xu Zhiyong Cai Jun Xie Jiansheng(Shenzhen Key Laboratory of Birth Defects Prevention and Control, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, China)

机构地区：[1]广东省深圳市妇幼保健院出生缺陷和预防控制重点实验室,518048

出　　处：《中华医学遗传学杂志》2017年第5期684-687,共4页Chinese Journal of Medical Genetics

基　　金：深圳市卫生计生系统科研项目（201506062）

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CD4142（-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 heterozygous CD41-42 （--TCTT） and CD43 （G→T） mutations were simultaneously detected with reverse diagnosis for two couples who respectively carried mutations of the ~ hemoglobin gene. Methods The 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 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.

关 键 词：Β地中海贫血 产前诊断 核酸杂交 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]