Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea

Basit Öğe Kaydı
dc.authorid0000-0002-2119-9448en_US
dc.contributor.authorOcak, Zeynep
dc.contributor.authorOcak, Tarık
dc.contributor.authorDuran, Arif
dc.contributor.authorÖzlü, Tülay
dc.contributor.authorKocaman, Ertuğrul Mevlüt
dc.date.accessioned2021-06-23T19:34:23Z
dc.date.available2021-06-23T19:34:23Z
dc.date.issued2013
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractAimWe aimed to investigate the relation between mutations and polymorphisms playing roles in the onset of clinical findings of Familial Mediterranean Fever (FMF) and clinical phenotypic reflections manifesting with painful episodes, such as dysmenorrhea. Material and MethodsA total of 1000 female patients who had not responded well to non-steroidal anti-inflammatory drugs in the menstrual period, and who had presented to the emergency room with the complaint of recurrent pain episodes were included in the study. All the patients were Turkish women living in Istanbul. In this study, the mutations most frequently seen in the Mediterranean Fever Gene (MEFV), namely M694V, E148Q, M680I(G/C), V726A, P369S, R761H, A744S, M694I, K695R, F479L, M680I(G/A), and I692del were examined using the DNA sequence analysis following DNA isolation. ResultsThe number of individuals who had a mutation in at least one allele for FMF was 511 out of 1000 patients. Of these 511 patients, homozygous mutations were found in 21% (n=109), compound heterozygous mutations were found in 27% (n=136), and heterozygous mutations were found in 52% (n=266). The most frequent homozygous genotype seen in our study population was M694V/M694V. The most common compound heterozygote genotypes were M694V/M680I, M694V/V726A, M694V/E148Q, and M680I/V726A; and 11.7% (n=60) of the families in whom mutations were found had consanguinity. ConclusionWomen who present to the emergency room with the complaint of dysmenorrhea that is irresponsive to non-steroidal anti-inflammatory drugs may have several types of MEFV mutations that are responsible for FMF.en_US
dc.identifier.doi10.1111/jog.12061
dc.identifier.endpage1318en_US
dc.identifier.issn1341-8076
dc.identifier.issue8en_US
dc.identifier.pmid23800337en_US
dc.identifier.scopus2-s2.0-84892955908en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1314en_US
dc.identifier.urihttps://doi.org/10.1111/jog.12061
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7495
dc.identifier.volume39en_US
dc.identifier.wosWOS:000322015500005en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorDuran, Arif
dc.institutionauthorÖzlü, Tülay
dc.institutionauthorKocaman, Ertuğrul Mevlüt
dc.language.isoenen_US
dc.publisherWiley-Blackwellen_US
dc.relation.ispartofJournal Of Obstetrics And Gynaecology Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMediterranean Fever Geneen_US
dc.subjectMenstruationen_US
dc.subjectSevere Dysmenorrheaen_US
dc.titleFrequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrheaen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
zeynep-ocak.pdf
Boyut:
99.79 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam metin/Full text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
Cerrahi Tıp Bilimleri Bölümü Koleksiyonu
Dahili Tıp Bilimleri Bölümü Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu