基础医学与临床2012，Vol.32Issue(3)：309-312,4.
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 tamily analysis
摘要
Abstract
Objective To identify a rare mutation ( GCC-GAC) at codon 27 exon1 of β-globin gene in a p-thalasse-mia 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 exonl CD27( GCC-GAC) (Ala-Asp)of β-globin gene in the proband only. Conclusions A rare mutation at exonl 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Key words
β-thalassemia/β-globin gene/gene mutation分类
医药卫生引用本文复制引用
李敏敏,邹亚伟,张碧云,杨少灵,马玉花,陈福雄,吴梓梁..1例罕见β地中海贫血基因突变及其家系分析[J].基础医学与临床,2012,32(3):309-312,4.基金项目
广东省科技厅2011年社会发展计划项目立项(2011B 031800346) （2011B 031800346）
