首页|1例罕见α-地中海贫血产前诊断与家系分子遗传学分析

1例罕见α-地中海贫血产前诊断与家系分子遗传学分析

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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/αIVS-Ⅱ-119α 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.
Molecular genetic analysis of the family and prenatal diagnosis of 1 case of rare α-thalassemia
Objective To further undergo sequencing analysis on a suspected prenatal diagnosed fetus of rare thalasse-mia,and to perform family molecular genetic analysis on the proband.Methods Blood routine and hemoglobin electropho-resis were used to screen thalassemia,24 thalassemia mutations were detected by gap-PCR and PCR-RDB,and gene sequen-cing analysis was carried out on suspected rare thalassemia.Results The proband was a double heterozygote for--SEA thalas-semia and α2 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-119α HbH thalassemia child can provide scien-tific theoretical basis for genetic counseling and prenatal diagnosis of rare thalassemia.

thalassemiaIVS-Ⅱ-119 heterozygous mutation in α2 generare thalassemia genemolecular genetic diag-nosisprenatal analysis

李金花、赵文杰、覃茜、许桂丹

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广西百色市妇幼保健院遗传实验室,广西百色 533000

右江民族医学院附属医院医学检验中心,广西百色 533000

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

广西自然科学基金百色市本级财政科技计划项目右江民族医学院附属医院2020年度高层次人才科研项目

2020GXNSFBA297047百科20211815Y202011708

2024

10.3969/j.issn.1003-1383.2024.02.005

右江医学
右江民族医学院附属医院

右江医学

影响因子：0.779
ISSN：1003-1383
年,卷(期)：2024.52(2)
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