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A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions |
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| Authors: | V. Faà M. C. Rosatelli R. Sardu A. Meloni C. Toffoli Professor A. Cao |
| Affiliation: | 1. Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Cagliari, Italy;2. Istituto di Ricerca sulle Talassemie e Anemie, Mediterranee CNR. Cagliari, Italy;3. Divisione Pediatrica, Ospedale S. Anna. USL 31, Ferrara, Italy |
| 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: | β-Thalassaemia Deletions in the β-globin gene Gel electrophoresis Prenatal diagnosis |