摘要
目的通过对α及β-珠蛋白基因测序分析发现罕见珠蛋白生成障碍性贫血(简称地贫)基因突变,了解罕见突变的出现频率,丰富中国人群地贫基因突变谱。方法采用一代测序对表型与基因型不符的患者进行α或β-珠蛋白基因编码区序列分析。结果通过测序发现102例罕见地贫基因突变,其中β-地贫79例,共35种突变类型;α-地贫23例,共11种突变类型。结论地贫基因测序可以发现罕见突变基因,明确患者的基因型,为罕见地贫家系产前诊断提供重要支持,降低漏检率,降低重型地贫患儿出生率。
Objective To discover the mutations of rare thalassemia genes by sequencing ofαandβ-globin genes,to understand the frequency of rare mutations and to enrich thalassemia gene mutation spectrum in Chinese population.Methods For the cases of phenotype and genotype inconsistent,the 1st generation of sequencing was performed forαorβ-globin gene coding region sequence analysis.Results A total of 102 patients with rare thalassemia gene mutations were found by sequencing,including 79 cases ofβ-thalassemia with 35 kinds of mutant types,and 23 cases ofα-thalassemia with 11 kinds of mutant types.Conclusion The thalassemia gene sequencing could reveal rare mutations in genes,identify the genotype of patients,provide important support for prenatal diagnosis of rare thalassemia families,and reduce the missing rate and birth rate of children with thalassemia.
出处
《国际检验医学杂志》
CAS
2017年第15期2019-2021,共3页
International Journal of Laboratory Medicine
基金
广东省自然科学基金资助项目(2015A030310516)
关键词
罕见地贫
测序
基因突变
rare thalassemia
sequencing
gene mutation
