1例罕见β地中海贫血基因突变及其家系分析  

A case of β-Thalassemia with rare gene mutation and the family analysis

作　　者：李敏敏[1] 邹亚伟[1] 张碧云[1] 杨少灵[1] 马玉花[1] 陈福雄[1] 吴梓梁[1] 

机构地区：[1]广州医学院第一附属医院儿科,广东广州510120

出　　处：《基础医学与临床》2012年第3期309-312,共4页Basic and Clinical Medicine

基　　金：广东省科技厅2011年社会发展计划项目立项(2011B 031800346)

摘　　要：目的鉴定1种罕见的β地中海贫血突变类型。方法血液学分析采用血细胞分析仪及全自动快速电泳分析系统;α珠蛋白常规突变检测采用Gap-PCR;β珠蛋白常规突变检测采用反向点杂交法;样品的基因突变及基因型用β珠蛋白基因全长测序技术确定。结果先证者具有典型的β地中海贫血临床特点和血液学特性,HbF为5.8%,其父母各项指标均正常。未发现先证者及其家庭成员有已知的α-/β-地中海贫血基因突变,测序发现先证者及其母亲均为CD2(CAT-CAC)杂合子,父亲为CAC纯合子;先证者有β珠蛋白exon1 CD27(GCC-GAC)突变,编码的氨基酸由丙氨酸变为天冬氨酸,未发现其父母有CD27突变。结论 CD27(GCC-GAC)突变是罕见的β珠蛋白基因点突变,有助于指导人群筛查、遗传咨询和临床诊断。Objective To identify a rare mutation（GCC-GAC） at codon 27 exon1 of β-globin gene in a β-thalassemia carriers from a Chinese family.Methods Hematological cytoanalyzer and electrophoretic analysis system were used to analysis the phenotype.Gap-PCR was used to detect known mutation of α-globin gene.Known mutation of β-globin gene was detected by reverse dot blot analysis.The β-globin gene was sequenced to identify the genotype and to find out the underlying mutation of the sample.Results The proband presented a typical β-thalassemia intermedia phenotype,and the HbF was 5.8%,and no abnormal parameter were found in other family members.No mutation was detected.The sequencing revealed heterozygosity of codon 2（CAT-CAC） in the proband and her mother;and codon 27（GCC-GAC） mutation heterozygosity at exon1 CD27（GCC-GAC）（Ala-Asp）of β-globin gene in the proband only.Conclusions A rare mutation at exon1 may lead to β-thalassemia.The finding may enrich knowledge of the screening in β-thalassemia as well as the genetic counseling and Clinical diagnosis.

关 键 词：Β地中海贫血 β珠蛋白基因 点突变 

分 类 号：R556.71[医药卫生—血液循环系统疾病]