Biochemical and Molecular analysis of the beta-globin gene on Saudi sickle cell anemia

In this study, DNA was extracted then PCR was performed. Twelve overlapping fragments covering β-globin gene, have been generated by PCR.A total of 47 alterations have been recognized in β-globin gene. These alterations composed of: deletions, insertion or substitutions as follows:- one mutation identified on the 1st segment; three alterations on 2nd fragment; two alterations on 3rd segment; seven alterations on 4th segment; three substitution on 5th fragment; two changes on 6th fragment; five alterations on 7th fragment; seven substitution changes on 8th fragment; two heterozygous substitution changes on 9th fragment; three changes on 10th fragment and eight substitution changes on 11th fragment, and four changes on 12th fragment.SCA had profound negative effects on many organs, causing many complications. The results should be taken further to set up management strategies to improve outcomes.
Source: Saudi Journal of Biological Sciences - Category: Biology Source Type: research