Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations

Summary Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q). Each of these mutations was...

Full description

Saved in:
Bibliographic Details
Published inAnnals of human genetics Vol. 72; no. 1; pp. 41 - 47
Main Authors Jalkh, Nadine, Génin, Emmanuelle, Chouery, Eliane, Delague, Valérie, Medlej‐Hashim, Myrna, Idrac, Charles‐Antoine, Mégarbané, André, Serre, Jean‐Louis
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.01.2008
Subjects
Alleles
Case-Control Studies
common ancestor
Familial Mediterranean Fever - genetics
Familial Mediterranean Fever - physiopathology
FMF
Founder Effect
Gene Frequency
Genetic Markers
haplotype
Haplotypes
Humans
Lebanon
Microsatellite Repeats
Mutation
Lebanon
Online AccessGet full text

Cover

More Information
Summary:Summary Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q). Each of these mutations was associated with a particular haplotype that was less frequent among controls, confirming that they have probably arisen from unique mutation events and that the carrier chromosomes derived from a common ancestor. The estimated ages of the most recent common ancestor for each of the 5 mutations, using the ESTIAGE program, were 7000, 8500, 15000, 23000 and 30000 years for M694V, M694I, V726A, M680I and E148Q, respectively. Varying the mutation rate at one of the markers led to younger age estimates, but the mutation E148Q remained the oldest one. Comparison of haplotype distributions among the different Lebanese religious groups confirmed that Muslim sub‐populations (Shiites and Sunnites) as well as Christian ones, including Armenians who were formerly settled in the South‐Eastern part of Asia Minor (Cilicia), are all derived from an ancient common ancestral population in which most of the MEFV mutations were already present with their respective associated haplotypes.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0003-4800
1469-1809
DOI:10.1111/j.1469-1809.2007.00386.x