𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients

✍ Scribed by Myrna Medlej-Hashim; Mohammed Rawashdeh; Eliane Chouery; Issam Mansour; Valérie Delague; Gérard Lefranc; Roger Naman; Jacques Loiselet; André Mégarbané

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
29 KB
Volume
15
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Familial Mediterranean fever is an autosomal recessive disorder characterised by episodic fever, abdominal and pleuritic pain, serositis and arthritis. The FMF gene (MEFV) has been mapped to chromosome 16p13.3 and generates a protein found exclusively in granulocytes. Seventeen mutations have been reported up to the present in FMF patients. This study involves the screening of 14 mutations in 42 Jordanian patients by two methods: RFLP and ARMS. The most frequent mutations were M694V and V726A (20% and 14% of the alleles respectively), followed by M680I and E148Q (9.5% and 7% of the alleles respectively). The A744S mutation accounts for 2.5% and the M694I, T267I and F479L mutations account each for 1% of the alleles. E167D, R761H, P369S, I692del and M694del mutations were not found in this population. Forty-four percent of the alleles did not have any of the 14 mutations. The results show the diversity and the frequency of the mutations in the Jordanian patients, and open the way for further investigations on patients diagnosed to have FMF and in whom no mutations were found.

📜 SIMILAR VOLUMES

MEFV mutations in Turkish patients suffe
MEFV mutations in Turkish patients suffering from familial Mediterranean fever
✍ Nejat Akar; Müge Misiroglu; Fatos Yalcinkaya; Ece Akar; Nilgün Cakar; Necmiye Tü 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 2 views

Familial Mediterranean Fever (FMF) is a recessive inherited disorder affecting Sephardic Jews, Arabs, Armenians and Turks. The gene responsible for FMF was recently cloned and several disease-associated mutations have been described. We have evaluated seven MEFV mutations in 460 chromosomes of 230 u

Assessment of pyrin gene mutations in Tu
Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
✍ Xiaoguang Chen; Nathan Fischel-Ghodsian; Andrea Cercek; Melanie Hamon; Gonul Ogu 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 2 views

Familial Mediterranean fever (FMF) is an autosomal recessive disease clinically characterized by recurrent short self-limited attacks of fever accompanied by peritonitis, pleurisy, and arthritis and can lead to amyloidosis and renal failure in the longer term. It is prevalent mainly in non-Ashkenazi

A microscopic study of kidney tissue in
A microscopic study of kidney tissue in familial mediterranean fever patients
✍ Seda M. Sarı Kılıçaslan; Cevat Ayvalı; Hakkı Taştan 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 459 KB 👁 1 views

## Abstract Familial Mediterranean Fever (FMF) is an autosomal recessive hereditary disease leading mostly to renal failure and nephrotic syndrome. The ultrastructure of kidney has not been fully investigated in FMF associated renal disease. The aim of this study is to provide further evidence on t

Mutations in theMEFV gene in a large ser
Mutations in theMEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
✍ Dod�, C.; P�cheux, C.; Cazeneuve, C.; Cattan, D.; Dervichian, M.; Goossens, M.; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease affecting patients of the Mediterranean basin. FMF is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop a renal amyloidosis associated (AA) amyloidosi

Role of the R92Q TNFRSF1A mutation in pa
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean Fever
✍ Dina Marek-Yagel; Yackov Berkun; Shai Padeh; Merav Lidar; Yael Shinar; Ifat Bar- 📂 Article 📅 2010 🏛 Wiley (John Wiley & Sons) 🌐 English ⚖ 70 KB 👁 2 views

## Abstract ## Objective To define the frequency of the R92Q tumor necrosis factor receptor–associated periodic syndrome (TRAPS) mutation in patients with familial Mediterranean fever (FMF) and to study the role of this mutation in FMF. ## Methods Ninety‐two FMF patients and 250 controls were ge