[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.
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D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005914:Globins / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis*
D005914:Globins