Molecular genetic diagnosis of beta thalassemia in Pakistan

Molecular genetic diagnosis of beta thalassemia in Pakistan

A set of procedures, based on DNA analysis, has been developed to detect deletions and point mutations causing Beta thalassemia in the Pakistani population. These procedures can be used to analyze the presence of relevant changes in DNA, thus providing a reliable means for screening the high risk fa...

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Veröffentlicht in:Journal of the Pakistan Medical Association 1995-03, Vol.45 (3), p.66-70
Hauptverfasser: Khan, S N, Zafar, A U, Riazuddin, S
Format: Artikel
Sprache:eng
Schlagworte:
beta-Thalassemia - genetics
beta-Thalassemia - prevention & control
DNA Mutational Analysis
Genetic Testing
Humans
Pakistan
Point Mutation
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Zusammenfassung:A set of procedures, based on DNA analysis, has been developed to detect deletions and point mutations causing Beta thalassemia in the Pakistani population. These procedures can be used to analyze the presence of relevant changes in DNA, thus providing a reliable means for screening the high risk families, to provide them genetic counselling and prenatal diagnosis during early pregnancy. We have identified two mutations IVS-1 nt.5 (G--C) and codon 8-9 (+G) in 4 of the 6 families analyzed for these mutations.
ISSN:0030-9982