25371例不孕不育患者地中海贫血基因型分布调查

A Survey on Distribution of Thalassemia Genotypes in Infertile Population

目的:了解重庆及周边地区不孕不育患者地中海贫血(简称地贫)的基因携带率和突变类型,为开展胚胎植入前地贫基因诊断提供基础资料。方法:通过血液学参数分析筛查来我院就诊的不孕不育患者25371例,其中重庆籍16684例,四川籍4253例,贵州籍2050例,云南西藏等其他地区籍贯2384例;对筛查阳性者用Gap-PCR和反向点杂交技术进行地贫基因诊断分析。结果:共检出828例地贫携带者,总携带率为3.26%;其中重庆籍携带率为3.35%,四川籍携带率为3.48%,贵州籍携带率2.93%,云南西藏等地区籍携带率为2.56%;各籍贯间地贫携带率差异无统计学意义(P>0.05)。共检测出9种α-地贫基因型和11种β-地贫基因突变类型,其中最常见的α-地贫基因型为-α^(3.7)/αα、-^(SEA)/αα、-α^(4.2)/αα,最常见的β-地贫基因突变类型为CD41-42、CD17、IVS-Ⅱ-654。结论:重庆及周边地区不孕不育患者具有较高地贫携带率,在本地区对不孕不育患者提供遗传指导,开展胚胎植入前地贫基因诊断对减少患者负担具有重要临床意义。

Objective：To investigate the gene prevalence and genotypes of thalassemia in infertile population in Chongqing and its surrounding areas, and to provide theoretic basis for preimplantation genetic diagnosis. Methods：A total of 25371 infertile patients were screened by hematologic detection. These patients were from Chongqing (16684), Sichuan （4253）, G uizhou （2050） and other regions （2384）. The positive samples of screen-ing indicators were detected by Gap-PCR and Reverse dot blot hybridization for genetic diagnosis. Results：A total of 828 patients were found to have thalassemia gene mutations. The overall carrier ratio was 3. 26%. The carrier ratio of main area were as follows： Chongqing （3.35%）, Sichuan （3.48%）, Guizhou （2.93%） and other regions（2.56%）. There were no statistical significance among these areas(P 〉 0.05）. A total of 9 kinds of a-thalassemia gene mutations were detected and the three most common mutations were-α37/αα,--^SEA/αα,-α^4,2/αα. A total of 11 kinds of β-thalassemia gene mutations were detected and the three most common mutations were CD41-42, CD17, IVS-Ⅱ-654. Conclusions：The infertile population have a relatively high carrier ratio of thalassemia in Chongqing and its surrounding areas. It has important clinical significance to reduce the burden of infertile patients by preimplantation genetic diagnosis.