[3' base-specific-PCR technique and its application to prenatal diagnosis of beta-thalassemia]

A novel technique names 3' Base-Specific-PCR was used to detect the gene mutations of beta-thalassemia directly without ASO(Allele-specific Oligonucleotide) dot hybridization. Four oligonucleotide primers with 3' Base-Specificity was designed and synthesized according to 3 most common mutations in beta globin gene among Chinese (codon 41-42-(-TTCT) frameshift, codon 17 (A-T) and IVS-II-654(C-T) point mutation). Two fetuses at high risk for beta-thalassemia were diagnosed in early pregnancy by using the 3'-Base-Specific PCR technique. The results were confirmed by means of PCR combined with ASO techniques.