168例高危地中海贫血儿童基因谱分析

目的应用基因诊断技术探讨高危地中海贫血（地贫）儿童的常见基因谱的分布特征。方法用钦州地区168例高危地贫的儿童样本分别检测α-地贫及β-地贫基因型,而α-地贫分为3种α缺失型基因检测（--SEA/,-α3.7/-α4.2）和3种非缺失突变型α地贫（HbCS,HbQS,HbWS）。α缺失型基因检测应用单管多重PCR技术进行检测,非缺失突变型α地贫和β-地贫（检测中国人常见的17种位点）均采用反向斑点杂交法。结果在168例进行地贫基因检查的钦州地区高危地贫儿童中,检出α-地贫49例,占29.17%;其中缺失型α-地贫39例,占α-地贫79.59%,非缺失突变型α地贫10例,占α-地贫20.41%,检出β-地贫27例,占16.07%;其中双重杂合子5例,占2.98%;检出复合αβ-地贫12例,占7.14%;总检出率是55.36%。结论钦州地区是地贫高发区,应选择适当的检测方法对育龄人群进行大面积的地贫产前筛查,这对优生优育、干预地贫儿出生有着重要作用。

Genotype of 168 child cases with high-risk thalassemia

Objective To analyze the genotypes of high-risk thalassemia（thalassemia） children.Methods Samples were collected from 168 children with high-risk thalassemia and the genotypes of α-thalassemia and β-thalassemia were detected.The α-thalassemia cases were detected for three alpha deletion genotypes（-SEA/-a 3.7/-a 4.2）and three non-deletion mutant α-thalassemia（HbCS HbQS HbWS）.The alpha deletion genotype was detected with single-tube multiplex PCR technology,non-deletion mutant α-thalassemia and β-thalassemia（17 sites） in common Chinese people were detected with by using reverse dot blot hybridization.Results Totally 49 α-thalassemia cases were detected from 168 children at high risk of thalassemia,accounted for 29.17%;including 39 deletion α-thalassemia cases,accounting for 79.59% of the alpha-thalassemia cases,10 non-deletion mutant a-thalassemia cases,accounting for 20.41% of α-thalassemia.Twenty-seven deletion β-thalassemia cases were detected accounting for 16.07%;including double heterozygotes in 5 cases,accounting for 2.98%;detection composite αβ-groundpoor in 12 cases,accounting for 7.14%;the total detection rate was 55.36%.Conclusions The incidence of thalassemia in Qinzhou is high,and large-scale screening of thalassemia among population of child-bearing age is indicated for improvement of prenatal care and reduce the incidence of thalassemia ion Qinzhou.