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DNA sequencing of uncharacterized β–globin gene mutations in β–thalassaemia in children

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

El-Gawhari, Sumaya, Kamel, Azza, El-Beshlawi, Amal

Authors

Ahmad, Ghada Muhammad

Accessioned

2017-03-30 06:23:12

Available

2017-03-30 06:23:12

type

M.D. Thesis

Abstract

β–Thalassaemia refers to a group of inherited disorders characterized by a reduced of β-globin chains, affecting around 7 % of the world،¦s population being prevalent in tropical and subtropical regions including the Mediterranean, Southeast Asia and Southern China. The aim of this study was to characterize β-thalassaemia mutations, both common as well as rare among Egyptian β-thalassaemia children. Incorporation of DNA sequencing in Egypt for the first time enable the characterization of mutations not detected by mutation specific detection procedures was a prime concern of this work. An attempt to understand the β–thalassaemia spectrum in Egypt to be the base of carrier screening and prenatal diagnosis programs is an important goal of this study. Sixty eight subjects were studied, gene mutations by allele specific priming (PCR-ARMS). Uncharacterized samples were subjected to automated fluorescent direct DNA sequencing of PCR products .The commonest β-thalassaemia mutation among studied cases was IVSI-6 mutation accounting for 31.2% followed by the IVSI-110 mutation which accounted for 30.0%,then the IVSI-1 mutation 16.3%.Less common mutation detected were ،-87accounting for 2.5%, the IVSII-745 accounting for 6.3%, the Hb Knossos(CD27) mutations each accounting for 3.8%, IVSII-848 was 2.5% .The least common mutations were CD5, CD39,CD37 each accounting for 1.3% and the very rare mutation CD15 accounting for 1.3% ,two sickle/β–thalassaemia (2.5%) .In conclusion the use of PCR amplification and direct sequencing have permitted the accurate characterization for unidentified alleles and successfully solved 100% of the examined samples.

Issued

1 Jan 2005

Details

Type

Thesis

Created At

05 Feb 2023