The importance of results of MEFV gene analysis in cases prediagnosed as "familial mediterranean fever" Ai̇lesel akdeni̇z ateşi̇ ön tanisi alan olgularda MEFV gen mutasyon anali̇z sonuçlarinin önemi̇
Erciyes Tip Dergisi, cilt.28, sa.1, ss.19-24, 2006 (Scopus, TRDizin)
- Yayın Türü: Makale / Özet
- Cilt numarası: 28 Sayı: 1
- Basım Tarihi: 2006
- Dergi Adı: Erciyes Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.19-24
- Anahtar Kelimeler: Familial Mediterranean Fever, Marenostrin, Mutation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Purpose: In this study we aimed to determine "familial mediterranean fever locus" MEFV gene mutation in cases with a prediagnosis of familial mediterranean fever (FMF). Material and methods: MEFV mutations reported as being frequently seen (M680I, M694V, V726A and E148Q) were analyzed with PCR amplification kit (PRONTO™ FMF Basic, Savyon Diagnostic Ltd.) in 83 cases who were suspected of having FMF. Results: In 29 out of 83 cases, no mutations were observed whereas in 54 (65%) out of 83 cases, mutations in MEFV locus were observed. In 14 cases (%17), homozygote mutation of one locus was found. M680I/M680I homozygote mutation was observed in four cases and M694V/M694V homozygote mutation in ten cases. These results demonstrate that M694Vand M680I (these mutations are suggested to have more serious clinic patterns) mutations are seen frequently in our country. Forty cases (48%) had heterozygote mutations in MEFV gene. Seven out of 40 cases had compound heterozygote mutations (M680I/M694V mutations in 2 cases, M694V/V726A mutations in three cases, E148Q/M694V mutations in one case, and M680I/V726A mutations in one case). Conclusion: Our results represent a high carrier rate of mutations in MEFV gene in our country. In our era, genetic analysis of MEFV gene is an important diagnostic criteria for the FMF disease.