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目的回顾性分析深圳地区不孕不育患者α、β地中海贫血的携带率及基因类型。方法采集7358例不孕不育患者外周血,通过单管多重PCR(Gap-PCR)及DNA反向斑点杂交(reverse dot blot,RDB)方法,分析缺失型α-和突变型β-地中海贫血的基因类型。结果深圳不孕不育患者α、β地中海贫血基因总携带率为9.01%,缺失型α-地中海贫血基因携带率为6.58%,突变型β-地中海贫血基因携带率为2.69%,α、β-复合型地中海贫血基因携带率为0.27%。在缺失型α-地中海贫血中,--SEA/αα、-α3.7/αα、-α4.2/αα3种基因型检出率最高,占总缺失型的98.55%;β-地中海贫血中主要的5种基因型分别是CD41-42/N、654/N、-28/N、CD17/N、βE/N,占β-地中海贫血的92.42%。结论深圳地区不孕不育患者地中海贫血发病率较高,该研究为本地区不孕不育人群开展遗传咨询、植入前遗传学诊断和产前诊断等提供有价值的基础资料。
Objective To retrospectively analyze the carriers and gene types of α, β-thalassemia in infertility patients in Shenzhen. Methods Peripheral blood samples of 7358 infertile patients were collected and analyzed by single-tube multiplex PCR (Gap-PCR) and reverse dot blot (RDB) method to analyze the changes of deletional α- and mutant β-thalassemia Genotype. Results The overall prevalence of α, β thalassemia in Shenzhen infertility patients was 9.01%, the deletion rate of α-thalassemia carriers was 6.58%, the mutation rate of β-thalassemia carriers was 2.69% The prevalence of complex thalassemia carriers was 0.27%. Among the deletion type α-thalassemia, the highest detection rate of SEA / αα, -α3.7 / αα, -α4.2 / αα genotypes was 98.55% of the total deletion type, and β-thalassemia major The five genotypes were CD41-42 / N, 654 / N, -28 / N, CD17 / N and βE / N, accounting for 92.42% of β-thalassemia. Conclusion The prevalence of thalassemia is high in infertile patients in Shenzhen. This study provides valuable basic information for genetic counseling, preimplantation genetic diagnosis and prenatal diagnosis in infertile women in this area.