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Detection of M editerranean fever gene mutations in E gyptian children with inflammatory bowel disease
Author(s) -
Salah Samia,
ElShabrawi Mortada,
Lotfy Hala Mohamed,
Shiba Hala Fathy,
AbouZekri Maha,
Farag Yomna
Publication year - 2016
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.12482
Subject(s) - mefv , familial mediterranean fever , medicine , inflammatory bowel disease , ulcerative colitis , allele , polymerase chain reaction , gene mutation , gastroenterology , disease , immunology , mutation , gene , genetics , biology
Aim The aim of the current study is to investigate the prevalence of familial M editerranean fever gene ( MEFV ) mutations in a cohort of E gyptian children with inflammatory bowel disease ( IBD ), and to characterize familial M editerranean fever ( FMF )‐ IBD patients, helping better understanding of IBD pathogenesis. Methods The study enrolled 17 patients with ulcerative colitis ( UC ), 15 with Crohn's disease( CD ), 10 with indeterminate colitis ( IC ) and 33 healthy children as controls. All cases and controls were tested for 12 FMF gene mutations by reverse hybridization after multiplex polymerase chain reaction amplification and DNA sampling. Results Eighty‐eight percent of the IBD patients carried the mutations, with S equence variant V 627 A being the commonest versus 42.4% of controls. No associations were found between MEFV gene mutations, and phenotypic characteristics of IBD patients. Conclusion IBD patients, in populations with a high background carrier rate of MEFV variants, should be screened for MEFV gene mutations, especially those diagnosed as indeterminate colitis. Testing larger numbers of healthy E gyptian children for MEFV gene mutation is important to further determine the allele frequency in E gypt.