Beta
44459

Genetic study in Egyptian children with Wilson disease

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

El-Sisi, Aula A., El-Qaraqssi, Hanaa, Sharaf-El-Din, Heba, Hesham, Dina A.

Authors

Husain, Lamyaa Muhammad

Accessioned

2017-07-12 06:42:47

Available

2017-07-12 06:42:47

type

M.D. Thesis

Abstract

Background: Wilson disease (WD) is an autosomal recessive disorder, caused by defects in the copper transporting P-type ATPase encoded by ATP7B gene, resulting in deposition of copper mainly in liver and brain with significant disability or death if left untreated. An available regimen of treatment gives hope to those predisposed to the disease if diagnosed early. Methods: This study included 20 WD patients and 23 healthy members of their families. Direct sequencing was applied to exons 13and 19 of the ATP7B gene.Results:We identified one silent change c.3171G>A (p.A1003A) in exon 13of ATP7B gene in 25% of patients , Exon 19 was free of mutation in all subjects studied.Conclusion: Exons 13 and 19 of ATP7B gene should not be considered as important spots for sequencing in genetic analysis of Egyptian WD patients.

Issued

1 Jan 2013

DOI

http://dx.doi.org/10.21473/iknito-space/38396

Details

Type

Thesis

Created At

28 Jan 2023