A simple electrophoretic procedure for fetal diagnosis of β‐thalassaemia due to short deletions
- 21 November 1992
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 12 (11) , 903-907
- https://doi.org/10.1002/pd.1970121109
Abstract
This study describes three couples a t risk for homozygous β‐thalassaemia in which one of the partners carried a short deletion β‐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 β‐thalassaemia mutations due to deletion or addition of more than two nucleotides.Keywords
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