Study of genetic heterogeneity of hemoglobinopathy and β-thalassemia molecular variants in newborns

A complex of molecular-genetic and biochemical methods, such as hemoglobin isoelectric focusing and the amplification of refractory mutation systems, have been used for the first time to screen for inherited hemoglobinopathies among newborns in Baku. The phenotypical frequencies of pathological gene...

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Bibliographic Details
Published in:Molecular genetics, microbiology and virology microbiology and virology, 2011-03, Vol.26 (1), p.10-13
Main Author: Mamedova, R. F.
Format: Article
Language:English
Subjects:
Adenine
Biomedical and Life Sciences
Experimental Works
Life Sciences
Microbiology
Molecular Medicine
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Summary:A complex of molecular-genetic and biochemical methods, such as hemoglobin isoelectric focusing and the amplification of refractory mutation systems, have been used for the first time to screen for inherited hemoglobinopathies among newborns in Baku. The phenotypical frequencies of pathological genes of α- and β-thalassemias and abnormal hemoglobins S and D were 2.48, 1.95, 0.35, and 0.09%, respectively. Three types of mutations at β-thalassemia were identified, including the deletion of two nucleotides (two adenines) in codon 8 of the first exon (36.2%), the substitution of the guanine nucleotide for the adenine nucleotide at position 110 of intron-1, and the substitution of guanine nucleotide for adenine nucleotide at position 1 of intron-2 (13.79%) in the β-hemoglobin gene.
ISSN:0891-4168
1934-841X
DOI:10.3103/S089141681101006X