应用MAS PCR技术诊断β地中海贫血

Application of MAS PCR for diagonsis of β-thalassemia

本文应用多重等位基因特异PCR技术，对4种常见的β地货进行基因诊断．成功地对2例β地贫患者进行基因诊断和1例β地贫病危胎儿进行产前诊断。结果表明多重等位基因特异PCR技术具有简便、快速、准确和经济等优点．利于推广应用。

We applied multiplex allele-specificamplification (MASPCR)to detect four types of β-thalassemia mutations (CD41-42 (-4bp ), CD 17-＞o, CD 71-72 (＋A ) and -28 A-＞G ). Using thistechnique, We successfully diagnose 2 cases of β-thalassemia patients and one fetuses at risk for thedisease were prenatally diagnosed. The techniqueused is quite simple, fast, extremely sensitive, anddose not require the use of radioistotopes. It couldprovide a powerful new tool for molecular diagnosisof β-thalassemia-