Prenatal Diagnosis of Beta Thalassaemia Based on Restriction Endonuclease Analysis of Amplified Fetal DNA

Overview

Journal J Med Genet

Specialty Genetics

Date 1989 Jun 1

PMID 2738898

Citations 6

Authors

M Pirastu

M S Ristaldi

A Cao

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Application of diagnostic methods and molecular diagnosis of hemoglobin disorders in Khuzestan province of Iran.

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Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

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Prenatal diagnosis of inherited hemoglobinopathies.

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