我国罕见异常血红蛋白突变型[β43(CD2)Glu→Lys]分析  

Detection of a rare variant of β-globin gene[β43(CD2)Glu→Lys] in Chinese

作　　者：莫桂玲[1] 胡朝晖[1] 张玲[1] 潘建华[1] 曾征宇[1] 喻长顺[1] 詹益鑫[1] 朱庆义[1] 

机构地区：[1]广州金域医学检验中心,广州510330

出　　处：《国际检验医学杂志》2010年第9期918-919,921,共3页International Journal of Laboratory Medicine

基　　金：广州市科技攻关项目(编号:2008A1-E4071)

摘　　要：目的分析1例中国人少见的β-珠蛋白突变型——[β43(CD2)Glu→Lys]。方法表型分析采用常规红细胞指数和血红蛋白电泳分析技术;采用寡核苷酸探针法(PCR/ASO)检测中国人常见17种β-地贫基因突变;最后将β-珠蛋白基因全长DNA克隆测序分析其基因突变及基因型。结果反向点杂交筛查未发现已知的β-珠蛋白基因突变,通过DNA直接测序分析,发现该先证者携带有1个异常血红蛋白突变型[β43(CD2)Glu→Lys]基因。结论 [β43(CD2)Glu→Lys]基因是我国罕见的1种异常血红蛋白突变型。Objective To detecte a rare variant of [β43（CD2） Glu→Lys] at position 310 of theβ-globin gene previously unre ported in the Hb variant carriers from a Chinese. Methods In phenotype analysis,standard hematological techniques were used to measure RBC counts and Hb concentration. PCR/ASO probe hybridization analysis, was used to scan 17 known types of beta- thatassemia mutation in Chinese. Using gene clone and DNA sequence analysis of the entire human β-globin gene to identify the underlying causative mutation of the sample and to identify its genotype. Results The proband presented a normal value with mean corpuscular volurne（MCV, 97fl） and elevated level of Hb（A2 ＋ E）（46.99 % ）, but known β-globin gene mutations were not found in the sample by reverse dot blot（RDB） analysis. DNA sequencing of theβ-globin gene region of the sample revealed heterozygosity for the G→A substitution at position 130 within exon 2 of theβ globin gene,which was not reported in Chinese population previously. Conclusion [β43（CD2）GIu→Lys] is a rare variant of β globin gene in Chinese.

关 键 词：珠蛋白 基因 突变 DNA 诊断 血红蛋白类 

分 类 号：R556.7[医药卫生—血液循环系统疾病]