应用突变引物延伸扩增技术快速产前诊断β地中海贫血基因突变

Rapid Prenatal Diagnosis for β-Thalassemic Mutations by Mutant Oligonucleotide Extension Amplification

目的 探讨综合应用突变引物延伸扩增 (MOEA)及巢式聚合酶链反应 (PCR)技术进行β地中海贫血产前诊断的可行性。 方法 先用一对外侧引物扩增 1.5 Kbβ珠蛋白基因片段 ,再用MOEA技术检测β地中海贫血点突变。 结果 完成了 6例β地中海贫血高危胎儿的产前基因诊断 ,其中双重杂合子 1例 ,杂合子 3例 ,正常胎儿 2例 ;经分娩或流产后基因分析验证 ,结果与产前诊断完全一致。 结论 MOEA技术适合于已知点突变的基因诊断和产前诊断 ,具有快速、简便、安全、准确等优点 ,便于推广应用。

s Objective To study the possibilisy of prenatal genetic diagnosis of β thalassemia by mutant oligonucleotide extension amplification (MOEA) and nested PCR technique. Methods The 1.5 Kb β globin gene fragment was amplified with a pair of external primers and then the β Thealassemic mutants were analyzed by MOEA. Results Prenatal diagnosis were suceessfully made in 6 fetuses at risk for β thalassemia in which one was double heterozygotes of β thalassemia,3 were herozygotes, and 2 were normal. The predictions had been confinned after delivery or therapeutic abortion, and no discrepancy was found. Conclusion This tecnnique can be used for genetic diagnosis and prenatal diagnosis of characterized point mutations. It is simple, rapid, accurate and suitble to clinical dignosis.