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G6PD gene polymorphisms in Egyptian deficient patients

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical and Chemical Pathology

Advisors

Arnaoutt, Hanaa H. , El-Gharabawi, Nesrin , Shahin, Eiman A.

Authors

Abdel-Dayem, Umneya Yahya Ebrahim

Accessioned

2017-07-12 06:42:03

Available

2017-07-12 06:42:03

type

M.Sc. Thesis

Abstract

Full molecular characterization of biochemical variants of glucose-6-phosphate dehydrogenase (G6PD) deficiency, using current techniques, is required as biochemical characterization has lost its significance as a means of identifying variants. In the present work, 50 G6PD deficient Egyptian children were subjected to quantitative G6PD enzyme assay, PCR-ARMS technique for detecting the G6PD Mediterranean mutation and PCR-RFLP for assessing the G6PD 1311T silent polymorphism. The G6PD Mediterranean mutation was found in 31 patients (62%) and the G6PD 1311T silent polymorphism was found in 26 patients (52%) and both mutations were statistically associated. A highly significant association of G6PD 1311 T allele in Mediterranean variant and male sex was detected. PCR- ARMS is an easy and rapid tool for diagnosis of G6PD Mediterranean mutation .This method suits the need for continuous and repeated assays for the changes in the incidence of Mediterranean mutation in the Egyptians, who are characterized by a dynamic state of migration.

Issued

1 Jan 2010

DOI

http://dx.doi.org/10.21473/iknito-space/37474

Details

Type

Thesis

Created At

05 Feb 2023