EXON-3 MUTATIONS OF
ß-GLOBIN GENE IN EGYPTIAN ß-THALASSEMIC CHILDREN
Nosair
A.E.; Behaidy R.M.A. and Gaber U.A.*
Pediatric
and Biochemistry* Departments
Zagazig
Faculty of Medicine
Zagazig, Egypt
Objective
Study
of exon-3 mutations of the ß-globin gene in Egyptian ß-thalassemic
children.
Methods
50
children with ß-thalassemia major were subjected to the following research
investigations :
DNA
extraction
DNA
quantitation.
Gel electrophoresis for
DNA preparation
Primers design
Amplification of exon-3
human ß-globin gene
and Digestion of the
amplified products with restrictive enzymes.
Results
-
Two patients had mutations at codons 108 and 143
due to failure of cut by the enzyme Mva I and in the same patients,
mutations were reported at codons 109 and 143 due to failure of cut by the
enzyme Eco R II.
-
Two other patients had a single mutation at
codon 123 due to failure of cut by the enzyme Eco R I.
-
One patient had a single mutation at codon 127
due to failure of cut by the enzyme Bsr I.
-
One patient had a single mutation at codon 111
due to failure of cut by the enzyme Mae II.
-
One patient had a single mutation at codon 110
due to failure of cut by the enzyme Sst II.
-
Children with exon-3 mutations had varying
degrees of clinical severity.
Conclusion
The
phenotypic expression of ß-thalassemia is related to mutations which exist
at different sites of the ß-globin gene.