2506例不孕不育患者地中海贫血基因分型分析

目的 调查某院生殖医学中心就诊的不孕不育患者中地中海贫血基因的携带情况、基因突变类型及构成比,制定有效可行的地中海贫血防治计划,有效降低地中海贫血的发病率,为达到“优孕”的目的提供参考.方法 采用聚合酶链反应(PCR)法、跨越断点PCR方法和导流杂交技术对某院就诊地中海贫血血液学筛查阳性的不孕不育患者进行地中海贫血基因分析.结果 2 506例疑似病例中检出942例地中海贫血基因携带者,检出率为37.59％;其中654例为α地中海贫血基因携带者,占69.43％,检出11种α地中海贫血基因型,以--SEA/αα(72.32％)、-α3.7/α α(15.75％)和-α 4.2/α α(3.67％)三种缺失型α地中海贫血基因最常见;β地中海贫血基因携带者占28.77％,15种β地中海贫血基因突变类型中共检出13种,突变频率较高的前3位依次为IVS-2-654(38.75％)、CD41-42(29.89％)、CD17(10.70％);复合型地中海贫血基因携带者占1.80％,检出12种复合型地中海贫血基因类型,以-α3.7/α α复合CD17/N最多见,占23.53％.结论 安徽医科大学解放军174临床学院生殖医学中心就诊的不孕不育患者地中海贫血发生率较高,α地中海贫血以缺失型-SEA/αα基因型最为常见,β地中海贫血则以IVS-2-654 (C-T)位点的突变最为常见.应加强对不孕不育患者地中海贫血血液学筛查和基因诊断,以预防重型地中海贫血患儿的出生,达到“优孕”的目的.

Thalassaemia genotypes in 2 506 infertility patients

Objective To survey the gene carrying rate,gene mutation types,and distribution characteristics of thalassemia in the infertility patients treated at a reproductive medicine center and make a feasible and effective plan for thalassemia prevention so as to effectively decrease the incidence of thalassemia and provide some references for "optimal pregnant".Methods Polymerase chain reaction (PCR),gap single polymerase chain reaction(GS-PCR),and reverse dot blot hybridization(RDB) were used to analyzed the thalassaemia genotypes in 2506 infertility patients positive in thalassemia screening.Results Among the 2 506 cases,942 (37.59％) were detected as α-or β-thalassamia carriers.Among the 942 cases,654 were α-thalassamia carriers.11 α-thalassamia gene mutation types were found;the most common mutations were--SEA/ αα (473 cases),-α3.7/αα (103 cases),and-α4.2/αα (24 cases),accounting for 72.32％,15.75％,and 3.67％,respectively.271 cases were surly diagnosed as β-thalassamia carriers;13 gene mutation types was found among 15 β-thalassamia gene mutation types.IVS-2-654 (38.75％),CD41-42 (29.89％),and CD 17 (10.7％) took the top 3 gene mutation frequencies.17 cases (1.80％) were composite β-thalassamia carrier.12 composite β-thalassamia gene mutation types were found.The most common mutation type was-α3.7/αα composite CD17/N,accounting for 23.53％.Conclusions The gene mutation rate ofthalassamia is rather high in the infertility patients treated at the reproductive medicine center of 174th Hospital of PLA.-SEA/α,α genotype and IVS-2-654 (C-T) gene mutation are the most common types in α-and β-thalassemia.In order to reduce the incidence of severe thalassemia in children,it is important to strengthen hematology screening and genetic diagnosis for thalassemia so as to achieve the purpose of "optimal pregnant".