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A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions
V Faà1, M C Rosatelli, R Sardu
1Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy.
Prenatal Diagnosis
|November 1, 1992
Abstract:
This study describes three couples at risk for homozygous beta-thalassaemia in which one of the partners carried a short deletion beta-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect beta-thalassaemia mutations due to deletion or addition of more than two nucleotides.