Comparative screening of FMF mutations in various communities of th e Israeli society

Department of Biology and Biochemistry
is pleased to invite y
ou to a general lecture entitled
Comparative screening of FMF mutations invarious communities of the Israeli society
Presented by
Dr. Abdelnaser Zalan
Date: Tuesday 5/3/2013 , Time: 3:00 pm
Place: Science Room Sci 21
5
ABSTRACT
Familial Mediterranean Fever (FMF) is an autosomal recessive d
isease that is widely spread in the populations of the Mediterranean region
. It is characterized by recurrent fever and inflammatory attacks. A total
of 1700 suspected patients, belonging to various communities in Israel: Je
ws (Ashkenazi and non-Ashkenazi), Arabs (Muslims and Christians) and Druze
, were subjected to examination for FMF mutation screening. The patients w
ere screened for the most common six MEFV gene mutations namely, M680I, M
694V, M694I, V726A, E148Q and K695R. Fifty five percent of the cases wer
e confirmed to have MEFV mutations. The most common mutations among all thecases studied were M694V, E148Q and V726A. The common mutations in the re
spective communities were: among the Jews M694V with a frequency of 69.9% (
76.8% for non-Ashkenazi Jews and 43.6% for Ashkenazi Jews), among the Arab
s V726A with a frequency of 32.7% (32.7% for Muslims and 32.1% for Christia
ns) and among Druze it was E148Q with a frequency of 52.1%. The characteris
tic mutation present in Jews was K695R and the one in Arabs was M680I, whi
le no characteristic mutation was found in Druze. On the other hand, mutat
ion E148Q was observed to have a considerable occurrence in patients of allethnic groups studied. Furthermore, our results revealed that homozygous
mutations accounted for 168 cases (18%). The homozygote mutation M694V was
the most prevalent among Jews and the E148Q mutation was the most common am
ong Druze, while, among Arabs there were three homozygous mutations havin
g maximum penetrance, namely, V726A, M694V and M694I. Our study comprehe
nsively provided a spectrum of FMF mutations in various communities and sub
-communities of Israeli society.