国际医药卫生导报2016，Vol.22Issue(24)：3739-3741,3744,4.DOI:10.3760/cma.j.issn.1007-1245.2016.24.005
2506例不孕不育患者地中海贫血基因分型分析
Thalassaemia genotypes in 2 506 infertility patients
摘要
Abstract
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".关键词
不孕不育/地中海贫血/基因型/导流杂交技术/聚合酶链反应Key words
Infertility/Thalassemia/Genotype/Diversion hybridization/Polymerase chain reaction引用本文复制引用
蓝惠华,王厚照,王玮玮,杨艳,程玲,陈涌泉,金丹丹,张玲..2506例不孕不育患者地中海贫血基因分型分析[J].国际医药卫生导报,2016,22(24):3739-3741,3744,4.基金项目
Project of Scientific Plan in Xiamen (3502Z20144036)厦门市科技计划项目(3502Z20144036) （3502Z20144036）
