ஜர்னல் ஆஃப் ஜெனடிக் கோளாறுகள் & மரபணு அறிக்கைகள்

The Prevalence of Three Common MEFV Gene Mutations in West Bank Population among Students of Najah National University, Palestine

Tanbour RG, Sawafta TS and Basha WS

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder. The clinical symptoms of FMF are nonspecific and difficult to distinguish from similar symptoms arising from completely different diseases. Following the cloning of the gene associated with this disease (MEFV), genetic analysis of its mutations has become available. Of these mutations, five account for more than 70% of FMF cases which are; V726A, M694V, M694I, M680I and E148Q. In this study, three out of the five common mutations of MEFV gene were analyzed in apparently healthy people in West Bank, Palestine.

Method: We performed A cross sectional, non-interventional, descriptive study that aims to calculate the prevalence of three common MEFV gene mutations (M694V, M680I and V726A) in the West Bank population by taking a representative sample among An-Najah National University (NNU) students at the period between November 2013- January 2014. The research included a simple questionnaire and blood sampling searching for 3 common MEFV gene mutations.

DNA was extracted promptly using Phenol-Chloroform Isoamyl Alcohol (P-CIA) protocol. PCR methods were used to analyze the M694V, M680I and V726A mutations that have been previously defined by us to be three out of five commonest mutations worldwide.

Results: Overall, the prevalence of three common MEFV gene mutations in West Bank population among students of NNU was 23.5 %. The most common mutation was V726A (12.7%), followed by M680I (8.3%), while the least one was M694V (2.4%).

Conclusions: In conclusion, the prevalence of the MEFV gene mutations was high and similar to neighbor countries such as Syria and Iran. According to these results, genetic counseling can play important role in reducing the number of affected patients, genetic screening in families with affected patients can reduce the risk of developing complications, as amyloidosis, by providing proper prophylactic with colchicine.