一种新的β-珠蛋白基因内含子Ⅱ碱基缺失和插入突变的基因型和表型分析  

Genotype and phenotype analysis of base deletion and insertion mutation of a novelβ-globin gene intronⅡ

作　　者：陈成 梁文雪 肖璇[2,3] 刘倩 赵劲民 Chen Cheng;Liang Wenxue;Xiao Xuan;Liu Qian;Zhao Jinmin(Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry,Guangxi Medical University,Nanning 530021,China;Thalassemia Research Institute,Guangxi Medical University,Nanning 530021,China;Guangxi Key laboratory of Thalassemia Research,Guangxi Medical University,Nanning 530021,China)

机构地区：[1]再生医学与医用生物资源开发应用省部共建协同创新中心,南宁530021 [2]广西医科大学地中海贫血防治研究所,南宁530021 [3]广西地中海贫血防治重点实验室,广西医科大学,南宁530021

出　　处：《广西医科大学学报》2023年第11期1788-1791,共4页Journal of Guangxi Medical University

基　　金：国家自然科学基金资助项目(No.81960574)。

摘　　要：目的:分析β-地中海贫血的基因型,明确是否存在新的突变。方法:对病例进行血液学分析、血红蛋白(Hb)分析及荧光PCR及DNA测序分析地中海贫血基因突变类型。结果:共194例确诊为β-地中海贫血,其中1例为新的β-珠蛋白基因内含子Ⅱ基因突变杂合子。病例男患儿,2岁,临床有轻度贫血。Hb分析结果Hb A 92.9%,Hb A2、Hb F均升高,Hb A2为4.2%,Hb F为2.9%。基因分析显示为杂合子β-珠蛋白基因IVS-Ⅱ-561至IVS-Ⅱ-562有1个碱基缺失和13个碱基插入突变,基因突变类型为IVS-Ⅱ-561-562(-1 bp,+13 bp)。结论:新的β-珠蛋白基因IVS-Ⅱ-561至IVS-Ⅱ-562突变的杂合子导致β-地中海贫血,临床表现为轻度贫血,Hb A2水平升高。Objective:To analyze the genotype of b-globin gene and try to confirm whether novel mutations existed.Methods:Blood routine analysis and hemoglobin(Hb)analysis were performed on the cases.The thalassemia genotypes were analyzed by fluorescence PCR and DNA sequencing.Results:A total of 194 cases were diagnosed withβ-thalassemia,and one of them was heterozygous for a novel mutation in intronⅡof theβ-globin gene.The case was a two-year-old boy with mild anemia in clinical.The results of Hb analysis showed Hb A was 92.9%,with an increase in Hb A2(4.2%)and Hb F(2.9%).DNA sequencing showed that there was a heterozygous mutation in the b-globin genes IVS-Ⅱ-561 to IVS-Ⅱ-562,involving one base deletion and 13 base insertion mutation.The genotype was identified as IVS-Ⅱ-561-562(-1 bp,+13 bp).Conclusion:The heterozygosis of the novel IVS-Ⅱ-561 to IVS-Ⅱ-562 mutation in the b-globin gene results in b-thalassemia,with mild anemia and elevated Hb A2 levels.

关 键 词：Β-珠蛋白基因 内含子Ⅱ Β-地中海贫血 基因型 临床表型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]