贵州地区15例罕见β-地中海贫血携带者基因型及表型分析  

Genotype and phenotype analysis of 15 rare β-thalassemia carriers in Guizhou Province

作　　者：吴鹏 谢丹 吴江芬 王磊 李頔 黄盛文 WU Peng;XIE Dan;WU Jiangfen;WANG Lei;LI Di;HUANG Shengwen(School of Laboratory Medicine,Zunyi Medical University,Guizhou Province,Zunyi563003,China;School of Medicine,Guizhou University,Guizhou Province,Guiyang550025,China;Department of Medical Genetics,Guizhou Provincial People’s Hospital,Guizhou Province,Guiyang550002,China)

机构地区：[1]遵义医科大学检验医学院,贵州遵义563003 [2]贵州大学医学院,贵州贵阳550025 [3]贵州省人民医院医学遗传科,贵州贵阳550002

出　　处：《中国医药导报》2023年第20期97-100,133,共5页China Medical Herald

基　　金：国家自然科学基金资助项目(81960040);贵州省科技计划项目(黔科合平台人才[2020]5011、黔科合支撑[2019]2808、黔科合基础[2019]1206)。

摘　　要：目的 对疑似β-地中海贫血(简称“β-地贫”)病例进行β-珠蛋白基因序列分析,明确罕见突变位点并分析其临床表型。方法 对2020年1月至2022年3月在贵州省人民医院具有β-地贫血液学表型但常规β-地贫基因检测结果为阴性且无亲缘关系的20例疑似β-地贫携带者,应用PCR技术扩增β-珠蛋白基因全长,用Sanger测序技术对扩增产物进行双向测序。测序结果与β-珠蛋白基因参考序列进行比较分析,查找是否存在罕见突变类型。结果 在20例疑似β-地贫携带者中发现有15例携带有罕见β-珠蛋白基因突变,共6种突变类型:CD53(-T)、CD5(-CT)、CD8(-AA)、-88(C>A)、Cap+22(G>A)和-50(G>A)。除1例-50(G>A)携带者外,其余14例均表现为轻型β-地贫的临床表型。结论 对血液表型与基因型不符的疑似β-地贫携带者进行罕见β珠蛋白基因分析,对指导β-地贫遗传咨询、产前诊断和降低中重型β-地贫患儿的出生具有重要作用;本研究结果拓展了中国人群和贵州地区β-珠蛋白基因突变谱。Objective To identify theβ-globin gene sequence of suspected cases ofβ-thalassemia(“β-thalassemia”for “7short”),the rare mutation site identified and the clinical phenotype were analyzed.Methods From January 2020 to March 2022,20 suspectedβ-thalassemia carriers with hematologic phenotype but no relatedβ-thalassemia gene test results were negative in Guizhou Provincial People’s Hospital.The full length ofβ-globin gene was amplified by PCR,The amplification products were sequenced bidirectionally by Sanger sequencing technique.The sequencing results were compared with theβ-globin gene reference sequence to find out whether there were rare mutations.Results Among 20 Carriers with suspectedβ-thalassaemia,15 were found to carry rareβ-globin gene mutations,with a total of six mutation types:CD53(-T),CD5(-CT),CD8(-AA),-88(C>A),Cap+22(G>A)and-50(G>A).Except for one case of-50(G>A)carrier,the other 14 cases showed the clinical phenotype ofβ-thalassaemia minor.Conclusion Rareβ-globin gene analysis in suspected carriers whose phenotypes were not consistent with their genotypes plays an important role in guidingβ-thalassemia genetic counseling,prenatal diagnosis and reducing the birth of children with moderate and severeβ-thalassaemia.The results of this study broaden the mutation spectrum ofβ-globin gene in Chinese population and Guizhou region.

关 键 词：地中海贫血 Β-珠蛋白 Sanger测序 点突变 基因型 基因表型 

分 类 号：R722[医药卫生—儿科]