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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。
Objective To investigate the feasibility of prenatal diagnosis of β-thalassemia combined with mutated primer extension (MOEA) and nested polymerase chain reaction (PCR). Methods A pair of lateral primers was used to amplify the 1.5 Kb β-globin gene fragment and the point mutation of β-thalassemia was detected using the MOEA technique. Results Prenatal genetic diagnosis of 6 fetuses with β-thalassemia major was completed, including 1 case of double heterozygote, 3 cases of heterozygote and 2 cases of normal fetus. The results of gene analysis confirmed by labor or abortion were consistent with prenatal diagnosis. Conclusion MOEA technique is suitable for gene diagnosis and prenatal diagnosis of known point mutations. It has the advantages of fast, simple, safe, accurate and easy to popularize.