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目的:探讨地贫基因产前诊断对于降低出生缺陷,提高人口质量的重要意义。方法:应用聚合酶链反应结合反向点杂交技术(RDB-PCR)对149份羊水样本进行常见的17种β地贫突变基因检测。结果:受检的149份羊水,未检出β地贫突变基因43例(28.86%);β地贫杂合子70例(46.98%);β地贫纯合子或双重杂合子36例(24.16%)。结论:通过地贫基因产前诊断技术可有效地避免中、重度β地中海贫血患儿的出生,对于降低出生缺陷率,提高人口质量具有重要意义。
Objective: To explore the significance of prenatal diagnosis of thalassemia gene in reducing birth defects and improving population quality. Methods: Seventeen common β-thalassemia mutations were detected in 149 amniotic fluid samples by polymerase chain reaction-reverse dot blot (RDB-PCR). Results: Among the 149 samples of amniotic fluid examined, 43 (28.86%) were not detected in the mutation of β-thalassemia, 70 (46.98%) were thalassemia heterozygotes, 36 (24.16% ). Conclusion: Prenatal diagnosis of thalassemia gene can effectively prevent the birth of children with β and β thalassemia major, which is of great significance for reducing the birth defect rate and improving the population quality.