广西不孕症妇女α和β地中海贫血的基因型鉴定

Genotype identification of α and β thalassaemia in infertility women of Guangxi

目的调查广西区内的不孕症妇女α和β地中海贫血的基因型及其构成比。方法以整群抽样收集2014年1-6月份初次于181医院生殖中心行ART治疗的广西籍不孕症妇女外周血917份,采用基于PCR的基因诊断技术分析这些人α和β地贫的基因型。结果 917个外周血样品中,共检出α地贫基因携带者100例(包括2例双重杂合子),α地贫基因携带率为11.01%,共检出含3种α地贫的等位基因(--SEA,-α3.7,-α4..2),其构成比分别为54.46%、30.69%、14.85%;β地贫基因携带者35例,其中3例为β地贫复合α地贫双重杂合子,基因携带率为3.82%,共发现6种不同的基因型。βCD41-42(-CTTT)移码突变、βCD17(T-A)无义突变占突变基因的77.1%。结论α和β地中海贫血在广西不孕症妇女中的发生率很高。

Objective： To investigate the gene frequencies and mutation patterns of α and β thalassaemia in infertility women of Guangxi Zhuang Autonomous Region. Methods： Cluster sampling was used.A total of 917 of peripheral blood samples were collected for studying, the women was treatment through assisted reproductive technology （ART） for the first time Between January to June in 2014 in 181 hospital reproductive center of Guangxi. PCR-based methods were used to characterize the genotypes of α and β thalassaemia. Results： 100 of 917 peripheral blood samples were defined to be the gene carders of α thalassaemia. The α thalassaemia rate was as high as 11.01% including 2 compound heterozygotes. Three well-known types of α thalassaemia alleles were detected with gene contributions of 54.46% （--^SEA deletion） , 30.69% （-α^3.7 deletion） , 14.85% （-α^ 4.2 deletion） , respectively. 35 samples were defined to be the gene carders of β thalassaemia, including 3 double heterozygote for composite α thalassaemia. Six different genotypes of that were found and the carrying rate was 3.82%. Two well-known mutations of β CD41-42 （-CTTT） frameshieft and βCD17 （T-A） nonsense mutation were accounted for 77.1% of β thalassaemia alleles. Conclusion： α and β thalassaemia was a high incidence of infertility women in Guangxi.