浙江医学2023，Vol.45Issue(23)：2531-2534,4.DOI:10.12056/j.issn.1006-2785.2023.45.23.2022-3524
α2珠蛋白基因Questembert变异联合-α3.7缺失导致α-地中海贫血一家系的遗传学研究
Questembert variant with-α3.7 deletion of α2 globin gene detected in a alpha-thalassemia child and his family
摘要
Abstract
Objective To analyze the genotype of a suspected thalassemia child and his family.Methods A child with suspected thalassemia visited the Genetic Counseling department of Huzhou Maternity and Child Care Hospital on May 20th,2021.The blood samples were collected from the patient and her family members.The common α-thalassemia genes were detected by fluorescence quantitative PCR,the blood system disease panel was detected by next generation sequencing,the results were verified by Sanger sequencing in the blood samples of the proband and his family members,as well as in the amniotic fluid DNA of his mother.Results The αα/-α3.7 deletion was detected by PCR in blood samples of the proband and his father.The next generation sequencing showed that the proband had a α2-globin HbA2 c.394T(p.Ser 132Pro)homozygous variant in HbA2 gene,the heterozygous variation of this locus was also detected in the mother and his family,but not in the mother's amniotic fluid DNA.Conclusion A child with suspected thalassemia carrying HbA2 c.394T＞C and-α3.7 deletion of α2 globin gene is reported in the study.Compared with αα/-α3.7 deletion carriers,those with HbA2 c.394T＞C(Questembert variant)heterozygous variant may show more typical characteristics of thalassemia.关键词
HbA2基因/Hb Questembert变异/-α3.7缺失型变异/非缺失型变异Key words
HbA2 gene/Hb Questembert variation/-α3.7 deletion type variation/Nondeletional mutation引用本文复制引用
张鑫丽,阳鑫妙,唐克锋,李雯雯,沈国松..α2珠蛋白基因Questembert变异联合-α3.7缺失导致α-地中海贫血一家系的遗传学研究[J].浙江医学,2023,45(23):2531-2534,4.基金项目
湖州市科技局计划项目(2023GY06) （2023GY06）
