【摘要】 目的对中国人常见的CD71-72、CD41-42、CD17→0、IVS-Ⅱ-654C→T和-28A→G等5种β-地中海贫血突变类型进行多重等位基因特异性PCR(MASPCR)技术检测,以证实该方法的可靠性和准确性。方法利用针对野生型及突变性β-珠蛋白等位基因的特异引物,应用单管MASPCR技术对我国常见的5种β-地中海贫血点突变类型进行产前分子检测。结果在被检测的8个家庭共24例受试者中,有17例表现为携带至少一种突变类型的杂合子。其中胎儿有1例为β-地中海贫血双重杂合子,5例为杂合子,2例正常。经分娩或流产后基因分析验证,所有结果均与产前诊断一致。结论MASPCR技术适合于检测β-地中海贫血已知点突变类型,是一种简便、可靠、经济的产前基因诊断方法,具有广阔的优生科学应用前景。更多还原

【Abstract】 Objective To detect five common types of β-thalassemia mutations [(CD71-72(+A),CD41-42(-4bp),CD17→0,IVS-Ⅱ-654C→T and-28A→G)] in the Chinese by using multiplex allele-specific PCR(MASPCR) and assess the reliability of this new technique. Methods Aiming directly at wild types and mutation types of β-globin alleles,MASPCR was performed in a single tube to make a prenatal detection of the common five kinds of point mutations of β-thalassemia. Results Seventeen cases in 24 of eight families were heterozygoted with at least one mutation allele.Among the fetus,one was double heterozygotes of β-thalassemia mutations,five single heterozygotes,and two normal.All were confirmed later by gene analysis after delivery or abortion,which coincided with the prenatal diagnosis. Conclusion This testing method can be used for detection of characterized point mutations in β-thalassemia,which is convenient,reliable and economical for prenatal gene diagnosis of β-thalassemia with a broad prospect in aristogenesis.更多还原