Linked Life Data

18307385

Source:http://linkedlifedata.com/resource/pubmed/id/18307385

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-3-31
pubmed:abstractText
Familial Mediterranean fever (FMF) is characterized by recurrent fever, serositis, and arthritis. Due to the abundance of mutations and clinical heterogeneity of the disease, different screening methods have been developed. In this study, we aimed to compare our findings of mutations determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with reverse hybridization (RH) methods. In 152 of 263 patients (57.79%) different mutations were determined with RH. Allelic frequencies were E148Q 6.84%, M680I(G/C) 3.61%, M694V 20.91%, V726A 7.03%, P369S 1.33%, F479L 0.19%, M680I(G/A) 0.76%, M694I 0.57%, K695R 0.57%, A744S 0.38%, R731H 0.38%, and del1692 0%. Frequent mutations were also confirmed by PCR-RFLP. There were no conflicting results between the two methods. Four of these genotypes were homozygous for a single mutation, 15 were heterozygous for two mutations, 8 were heterozygous for a single mutation, 1 was heterozygous for three mutations, and 1 was homozygous for one mutation and heterozygous for another mutation. It has been reported that analytical sensitivity of RH is 97%. We did not find a discrepancy between the two methods. In 21 patients, we detected additional mutations with RH. This finding was regarded as an advantage of RH, and we concluded that this assay is a useful method for detection of first stage FMF mutation screening.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1090-6576
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
171-4
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF.
pubmed:affiliation
Department of Medical Genetics, Baskent University Faculty of Medicine, Ankara, Turkey. feridesahin@hotmail.com
pubmed:publicationType
Journal Article, Comparative Study, Evaluation Studies