title: Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).
abstract: OBJECTIVE
  To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Lana Ayesh
authors: LA
authors: Habahbeh
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Mansour Al
authors: MA
authors: Hiary
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Samar F Al
authors: SF
authors: Zaben
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Asim
authors: A
authors: Al-Momani
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Rame
authors: R
authors: Khasawneh
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Mervat Abu
authors: MA
authors: Mallouh
authors: Department of Pathology, King Hussein Medical Center, Amman, Jordan.
authors: Hayab
authors: H
authors: Farahat
mesh_terms: D010505:Familial Mediterranean Fever / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007597:Jordan; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D000071198:Pyrin / Q000235:genetics; D012189:Retrospective Studies
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin
keywords: FMF; King Hussein Medical Center; genotype