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.

 
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