论文部分内容阅读
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 the β-globin gene sequence in patients with β-globinogenic anemia in Shenzhen and to understand the mutation types of β-globin gene in Shenzhen population. Methods 100 peripheral blood samples of 100 patients with β-globinbacillary dysplasia in Shenzhen were collected and genomic DNA was extracted. The full-length β-globin gene was amplified by polymerase chain reaction and the mutation of β-globin gene was confirmed by DNA sequencing Types of. Results Of the 89 patients with β-globinopathy in Shenzhen, we found 7 mutations in β-globin gene. The frequency of mutation was IVS-Ⅱ-654 (C → T), Codon17 (A → T), Codon 41/42 (-TTCT), Codon 71/72 (+ A), Codon 27/28 (+ C), Codon 43 (G → T), -28 (A → G). The remaining 11 cases of clinically diagnosed β-globin aplastic anemia β-globin gene mutation was not detected. Conclusion IVS-Ⅱ-654 (C → T), Codon17 (A → T) and Codon 41/42 (-TTCT) are common mutations in β-globin gene in Shenzhen population. Do not rule out the existence of mutations in the absence of mutations in the β-globin locus control region mutations, which will give prenatal diagnosis difficulties.