Common MEFV mutations in Egyptian patients with familial mediterranean fever
Joint Authors
al-Sayyid, Mahmud
al-Uzayzi, Nashwa M. A.
Ibrahim, Amani M.
Zahir, Tariq I.
Hashim, Muna E.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 11, Issue 1 (31 May. 2010), pp.59-68, 10 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2010-05-31
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Background : Familial Mediterranean fever (FMF) which is an autosomal recessive condition that primarily affect population of the Mediterranean basin.
If undiagnosed effectively and treated with colchicine for life it may lead to serious consequences in terms of renal amyloidosis and renal failure.
Objectives : We aim to check for the presence of FMF mutations in clinically suspected Egyptian patients, as an important step for family counseling and case management.
Subjects and Methods : The study is a pilot study to check for the presence of FMF mutations among suspected cases (24 cases) from Sharkia Governorate.
The control subjects (24) were selected from healthy volunteers.
We examined FMF mutations by PCR technique for MEFV gene analysis in order to establish a diagnosis of FMF by examining two mutations, M694V and E148Q.
Results : We found 58.3% (14/24 cases) of cohort were positive for M694V mutation, and all cohort were negative for E148Q mutation.
The normal controls were negative for previous two mutations.
Conclusions : PCR technique provides a rapid, reliable, cost-effective, noninvasive, and sensitive test for establishing a diagnosis of FMF in symptomatic patients and also provides a rational basis for medical and genetic counseling of FMF patients and their families.
American Psychological Association (APA)
al-Sayyid, Mahmud& al-Uzayzi, Nashwa M. A.& Ibrahim, Amani M.& Zahir, Tariq I.& Hashim, Muna E.. 2010. Common MEFV mutations in Egyptian patients with familial mediterranean fever. The Egyptian Journal of Medical Human Genetics،Vol. 11, no. 1, pp.59-68.
https://search.emarefa.net/detail/BIM-262064
Modern Language Association (MLA)
al-Sayyid, Mahmud…[et al.]. Common MEFV mutations in Egyptian patients with familial mediterranean fever. The Egyptian Journal of Medical Human Genetics Vol. 11, no. 1 (May. 2010), pp.59-68.
https://search.emarefa.net/detail/BIM-262064
American Medical Association (AMA)
al-Sayyid, Mahmud& al-Uzayzi, Nashwa M. A.& Ibrahim, Amani M.& Zahir, Tariq I.& Hashim, Muna E.. Common MEFV mutations in Egyptian patients with familial mediterranean fever. The Egyptian Journal of Medical Human Genetics. 2010. Vol. 11, no. 1, pp.59-68.
https://search.emarefa.net/detail/BIM-262064
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 66-68
Record ID
BIM-262064