Chinese J Haemtol 13:131, 1996.

Prenatal Diagnosis of beta-thalassemia Using Multiplex Allele-Specific Amplification (MASPCR).

Yuehua Mao, Zeng Yitao

Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, China.

To explore the new technique for prenatal diagnosis of ß-thalassemia, multiplex allele-specific amplification (MASPCR) was performed in ten fetuses at risk for severe ß-thalassemia. This method can detect five common types of ß-thalassemia mutations: -28A->G, CD17->0, CD41-42 (-4bp), CD71-72 (+A) and IVS-II-654 C->T. The results showed that 4 fetuses were compound heterozygotes with two different mutations, 2 were homozygotes with one mutation, 3 were heterozygotes with one mutation and one was normal. The results were confirmed by PCR/ASO probe hybridization or DNA sequencing. The method proved to be convenient, rapid and reliable.