1例罕见α-地中海贫血产前诊断与家系分子遗传学分析  

Molecular genetic analysis of the family and prenataldiagnosis of 1 case of rare α-thalassemia

作　　者：李金花[1] 赵文杰 覃茜[1] 许桂丹[2] LI Jinhua;ZHAO Wenjie;QIN Qian;XU Guidan(Laboratory of Medical Genetics,Maternal and Child Health Hospital of Baise,Baise 533000,Guangxi,China;Department of Laboratory Center,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)

机构地区：[1]广西百色市妇幼保健院遗传实验室,广西百色533000 [2]右江民族医学院附属医院医学检验中心,广西百色533000

出　　处：《右江医学》2024年第2期127-132,共6页Chinese Youjiang Medical Journal

基　　金：广西自然科学基金(2020GXNSFBA297047);百色市本级财政科技计划项目(百科20211815);右江民族医学院附属医院2020年度高层次人才科研项目(Y202011708)。

摘　　要：目的 对1例疑似携带罕见地中海贫血(简称地贫)的产前诊断胎儿进一步测序分析,对先证者进行家系分子遗传学分析。方法 运用血常规和血红蛋白电泳进行地贫筛查,采用gap-PCR法和PCR-RDB法检测24种地贫突变,对疑似罕见地贫进行基因测序分析。结果 先证者为--~(SEA)地贫与α2基因IVS-Ⅱ-119地贫双重杂合子,其IVS-Ⅱ-119地贫基因遗传自母方,--~(SEA)地贫基因遗传自父方。结论 --~(SEA)/α~(IVS-Ⅱ-119)α HbH地贫患儿的诊断,为罕见地贫的遗传咨询和产前诊断提供科学理论依据。Objective To further undergo sequencing analysis on a suspected prenatal diagnosed fetus of rare thalassemia,and to perform family molecular genetic analysis on the proband.Methods Blood routine and hemoglobin electrophoresis were used to screen thalassemia,24 thalassemia mutations were detected by gap-PCR and PCR-RDB,and gene sequencing analysis was carried out on suspected rare thalassemia.Results The proband was a double heterozygote for--SEA thalassemia andα2 gene IVS-Ⅱ-119 thalassemia,and the IVS-Ⅱ-119 thalassemia gene was inherited from her mother,and the--SEA was inherited from her father.Conclusion The diagnosis of--SEA/αIVS-Ⅱ-119αHbH thalassemia child can provide scientific theoretical basis for genetic counseling and prenatal diagnosis of rare thalassemia.

关 键 词：地中海贫血 α2基因IVS-Ⅱ-119杂合突变 罕见地贫基因 分子遗传学诊断 产前分析 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]