Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC)
Lana Ayesh Habahbeh, Mansour al Hiary, Samar F. Al Zaben, Asim Al-Momani, Rame Khasawneh, Mervat abu Mallouh, Hayab Farahat.
Abstract
Objective: To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. Method: This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of panel lines. Results: A total of 1868 (55.6%) samples were found negative, and one or more mutations were detected in 1491 (44.4%) distributed along the mutations. Of the positive results, the Frequency of the mutations was as follows, the M694V was the most common mutation 30%, followed by E 148Q 21.5%, V 726 A 20%, M6801 G/C 9%, M6941 8.3%, P369s 3.7%, A744S 3.1% and 4.2% among the 4 remaining mutations. Conclusion: Frequency of common mutations in our study show similar results in comparisons with Mediterranean countries like Egypt, Turkey, and Syria with the most common mutation in our study being M694V followed by E148 Q.
Key words: FMF, genotype, King Hussein Medical Center.
scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.
The articles in Bibliomed are open access articles licensed under Creative Commons Attribution 4.0 International License (CC BY), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
We use cookies and other tracking technologies to work properly, to analyze our website traffic, and to understand where our visitors are coming from. More InfoGot It!
