Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA release_ctkx3gxnlzahhaal7cjiaisele

by M Pirastu, M S Ristaldi, A Cao

Published in Journal of Medical Genetics.

1989   Volume 26, Issue 6, p363-7


In the Mediterranean area, 50% of the beta thalassaemia mutations abolish or create a restriction endonuclease site in the beta globin gene. This study describes a new procedure for prenatal detection of these beta thalassaemia defects based on the direct visualisation, on an ethidium bromide stained polyacrylamide gel, of the discrete DNA fragments produced by restriction endonuclease digestion of fetal DNA, enzymatically amplified using the DNA polymerase from the thermophilus bacterium Thermus aquaticus. We applied this procedure to the Sardinian population to detect the nonsense mutation at codon 39 and the frameshift at codon 6 of the beta globin gene; these are the most frequent beta thalassaemia mutations in this population, accounting for 95% and 2.2% of the beta thalassaemia chromosomes. The main advantages of this procedure are simplicity (no radioactivity), sensitivity (0.2 microgram of DNA), and rapidity (12 hours). The very small amount of fetal material required makes amniotic fluid cell culture unnecessary and may decrease the fetal loss rate associated with trophoblast sampling. By circumventing the use of radioactive and non-radioactive probes, the spread of this technology to the high risk areas will be facilitated.
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Type  article-journal
Stage   published
Year   1989
Language   en ?
PubMed  2738898
PMC  PMC1015619
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ISSN-L:  0022-2593
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