摘要
目的了解湖北十堰地区孕妇地中海贫血(简称地贫)的基因携带情况以及分布特点,为该病的筛查预防提供依据。方法选择2020年1月至2023年8月在十堰市太和医院产科门诊接受地贫基因筛查的4629例孕妇,利用荧光PCR熔解曲线法,检测地贫相关基因突变的情况。结果本次筛查共发现地贫基因突变体190例,地贫基因携带率为4.10%。其中α-地贫基因突变体129例(67.90%),共9种基因突变类型,以-α^(3.7)[81例(62.78%)]和--^(SEA)[23例(17.83%)]类型为主;β-地贫基因突变体54例(28.42%),共6种基因突变类型,以IVS-Ⅱ-654[21例(38.89%)]、CD41-42[17例(31.48%)]和CD17[11例(20.37%)]类型为主;αβ复合型地贫基因突变体7例(3.68%)。结论湖北十堰地区地贫基因携带者中α-地贫基因突变携带概率高于β-地贫基因突变。α-地贫基因突变类型以-α^(3.7)最常见,β-地贫基因突变类型以IVS-Ⅱ-654最常见,αβ复合型地贫少见。
Objective To investigate the gene carrier status and distribution characteristics of thalassemia in pregnant women in Shiyan,Hubei Province,in order to provide reference for the screening and prevention of thalassemia.Methods A total of 4629 pregnant women,who underwent genetic screening test for thalassemia in the obstetrics outpatient clinic of Taihe Hospital of Shiyan from January 2020 to August 2023,were selected.Thalassemia-related gene mutations were detected using the fluorescent PCR melting curve method.Results A total of 190 cases in the screening were positive for thalassemia gene mutations with a carrier rate of 4.10%.Among them,there were 129 cases(67.90%)with mutations in theα-thalassemia gene,involving 9 gene mutation types,with-α^(3.7)(81 cases,62.78%)and--^(SEA)(23 cases,17.83%)being the predominant types.There were 54 cases(28.42%)with mutations in theβ-thalassemia gene,encompassing 6 gene mutation types,with IVS-Ⅱ-654(21 cases,38.89%),CD41-42(17 cases,31.48%)and CD17(11 cases,20.37%)being the predominant types.Seven cases(3.68%)had compound mutations involving bothαandβthalassemia genes.Conclusion Among the thalassemia gene carriers in Hubei Shiyan,the probability ofα-thalassemia gene mutations is higher than ofβ-thalassemia gene mutations.The most common type ofα-thalassemia gene mutation is-α^(3.7),while the most common type ofβ-thalassemia gene mutation is IVS-Ⅱ-654,and compound mutations involving bothα-andβ-thalassemia genes are rare.
作者
邓娅君
李艳
杨毅
龚琦
张志军
DENG Yajun;LI Yan;YANG Yi;GONG Qi;ZHANG Zhijun(Center for Reproductive Medicine,Taihe Hospital of Shiyan,Affiliated to Hubei University of Medicine,Shiyan 442000,China)
出处
《大连医科大学学报》
CAS
2023年第6期509-512,共4页
Journal of Dalian Medical University
基金
鄂西北地区人类遗传病资源的整合收集(2019JJXM048)
作者简介
第一作者:邓娅君(1993-),女,主管技师。E-mail:15111084308@163.com;通信作者:张志军,副主任医师。E-mail:19872069512@163.com
