深圳地区β-珠蛋白生成障碍性贫血基因突变分析  

Mutation analysis of β-globin gene in Shenzhen population

作　　者：孙顺昌[1] 郭玲[2] 曹建华[1] 王燮衡[1] 彭运生[1] 

机构地区：[1]深圳市宝安区人民医院检验科,深圳518101 [2]深圳市宝安区慢性病防治院,深圳518133

出　　处：《中国优生与遗传杂志》2010年第6期11-13,3,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对深圳地区β-珠蛋白生成障碍性贫血患者的β-珠蛋白基因序列进行分析,了解深圳地区人群β-珠蛋白基因的突变类型。方法收集100例深圳地区β-珠蛋白生成障碍性贫血患者的外周血并抽提基因组DNA,通过聚合酶链反应扩增全长β-珠蛋白基因,经DNA测序确定β-珠蛋白基因的突变类型。结果在89例深圳地区β-珠蛋白生成障碍性贫血患者中,我们在β-珠蛋白基因中共发现7种突变,以突变频率高低依次为IVS-Ⅱ-654(C→T)、Codon17(A→T)、Codon41/42(-TTCT)、Codon71/72(+A)、Codon27/28(+C)、Codon43(G→T)、-28(A→G)。剩余11例临床诊断的β-珠蛋白生成障碍性贫血患者的β-珠蛋白基因未检出突变。结论在深圳地区人群中IVS-Ⅱ-654(C→T)、Codon17(A→T)和Codon41/42(-TTCT)为β-珠蛋白基因的常见突变。不排除未检出突变患者存在β-珠蛋白基因座控制区存在突变,这将给产前诊断带来困难。Objective： To analyze DNA sequence of β-globin gene in β-thalassaemia patients from Shenzhen population, and to investigate the β- globin gene mutations in Shenzhen population. Methods ： Genomic DNA was extracted from peripheral leukocytes in 100 β- thalassaemia patients from Shenzhen population. Full sequence of β- globin gene was amplified by polymerase chain reaction, Gene mutations were determined by DNA sequencing. Results ： Seven types of mutation were found in the β- globin gene in 89 β-thalassaemia patients from Shenzhen population, they were IVS - 11 -654 （C→T）, codonl7 （A→T）, codon41/42 （ - TTCT）, codon71/72 （ ＋A）, codon27/28 （ ＋C）, codon43 （G→T）, and -28 （A→G） according to mutation frequency. NO mutation was found in the β- globin gene in 11 β- thalassaemia patients. Conclusion： IVS-Ⅱ-654 （C→T）, codonl7 （A→ T）, and eodon41/42 （ - TTCT） are the frequent β - globin gene mutations among β - thalassaemia patients from Shenzhen population. β -globin locus control region mutations are not excluded for β-thalassaemia patients without β -globin gene mutations. This will make it difficult to make prenatal diagnosis for β -thalassaemia patients without β-globin gene mutations.

关 键 词：Β-珠蛋白基因 突变 DNA测序 

分 类 号：R556.7[医药卫生—血液循环系统疾病]