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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。
Objective To investigate the distribution of common gene profiles in children with high-risk thalassemia (thalassemia) using gene diagnostic techniques. Methods The genotypes of α-thalassemia and β-thalassemia were detected in 168 children with high-risk thalassemia in Qinzhou. The α-thalassemia was divided into three types of α-deletion gene (--SEA /, --α3.7 / -α4.2) and three non-deletion mutant α-thalassemia (HbCS, HbQS, HbWS). Detection of α-deletion genotypes was performed using single-tube multiplex PCR, and reverse dot blot hybridization was used for both non-deletion mutant α-thalassemia and β-thalassemia (17 common loci detected in Chinese). Results Among 168 high risk thalassemia children in Qinzhou area, 49 cases of a-thalassemia were detected, accounting for 29.17%. Among them, 39 cases were deletional a-thalassemia, accounting for 79.59% of a-thalassemia, Ten cases of deletional α-thalassemia were found, accounting for 20.41% of a-thalassemia, 27 cases of β-thalassemia were found, accounting for 16.07%. Among them, 5 cases were double heterozygote, accounting for 2.98% , Accounting for 7.14%; the total detection rate was 55.36%. Conclusion Qinzhou area is a high prevalence of thalassemia. Appropriate screening methods should be used to screen large-scale prenatal screening of thalassemia for children of childbearing age, which plays an important role in prenatal and postnatal care.