SavedAdd your journal

Journals / Trakya Üniversitesi Tıp Fakültesi Dergisi / 2010 / Cilt: 27 - Sayı: 1

MEFV gene exon 2 and exon 10 gene region mutations of familial mediterranean fever patients in Trakya population

Trakya populasyonundaki ailevi akdeniz ateşi hastalarında MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonları

HAKAN GÜRKAN
Neşe Emine ÖZKAYIN
KIYMET TABAKÇIOĞLU
Çetin ALGÜNEŞ
Pages
37–43
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Objectives: The objective of the study is to explore the MEFV gene exon 2 and exon 10 gene region mutations which take place in etiopathogenesis of Familial Mediterranean Fever in the Thrace population with the DNA sequence analysis method and to compare the results with the other studies.
📊
Key Findings & Data:Patients and Methods: The study included patients with Familial Mediterranean Fever who have no relative relationship, have the same linguistic characteristic and live in the Thrace region for at least three generations (34 females, 34 males).
💡
Conclusion & Impact:Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objectives: The objective of the study is to explore the MEFV gene exon 2 and exon 10 gene region mutations which take place in etiopathogenesis of Familial Mediterranean Fever in the Thrace population with the DNA sequence analysis method and to compare the results with the other studies. Patients and Methods: The study included patients with Familial Mediterranean Fever who have no relative relationship, have the same linguistic characteristic and live in the Thrace region for at least three generations (34 females, 34 males). MEFV gene exon 2 and exon 10 gene regions multiplied with PCR and their nucleotids were determined with the DNA sequence analysis method. Results: G442C, T306C, A414G, C495A, G605A SNPs were found in MEFV gene exon 2 gene region and G2040C, A2080G, G2082A, A2084G, T2177C, G2282A SNPs were found in MEFV gene exon 10 gene region in the Thrace population. Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies.

Özet

Amaç: Çalışmamızın amacı Trakya populasyonunda Ailevi Akdeniz Ateşi etyopatogenezinde yer alan MEFV geni ekson 2 ve ekson 10 gen bölgesi mutasyonlarının otomatize DNA dizi analizi metodu ile araştırılarak elde edilen sonuçların literatürdeki diğer çalışmalar ile karşılaştırılmasıdır. Hastalar ve Yöntemler: Çalışmaya Ailevi Akdeniz Ateşi tanılı hastalardan, birbirileri ile akrabalık ilişkisi bulunmayan, aynı karakteristik dil özellikleri gösteren ve en az üç kuşaktır Trakya Bölgesi'nde yaşayanlar (34 kadın, 34 erkek) dahil edildi. MEFV geni ekson 2 ve ekson 10 gen bölgeleri polimeraz zincir tepkimesi ile çoğaltılarak, otomatize DNA dizi analizi metodu ile nükleotid dizileri belirlendi. Bulgular: Trakya populasyonunda MEFV geni ekson 2 gen bölgesinde G442C, T306C, A414G, C495A, G605A, ekson 10 gen bölgesinde G2040C, A2080G, G2082A, A2084G, T2177C, G2282A tek nükleotid değişimleri belirlendi. Sonuç: Çalışmamızın sonuçları MEFV geni ekson 2 gen bölgesinde belirlediğimiz T306C, A414G, C495A, G605 tek nükleotid değişiklikleri ve ekson 10 gen bölgesinde belirlediğimiz mutasyonların sıklıkları açısından literatür ile farklılıklar göstermektedir.

🔖

Cite This Article

GÜRKAN, H., ÖZKAYIN, N. E., TABAKÇIOĞLU, K., ALGÜNEŞ, Ç. (2010). MEFV gene exon 2 and exon 10 gene region mutations of familial mediterranean fever patients in Trakya population. Trakya Üniversitesi Tıp Fakültesi Dergisi, Cilt: 27 - Sayı: 1, 37–43. https://ajindex.com/articles/369854

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Aldea A, Calafell F, Aróstegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus. Hum Mutat 2004;23:399
  2. Ustek D, Ekmekci CG, Selçukbiricik F, Cakiris A, Oku B, Vural B, et al. Association between reduced levels of MEFV messenger RNA in peripheral blood leukocytes and acute inflammation. Arthritis Rheum 2007;56:345-50
  3. Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007;71:458-67
  4. Sahin FI, Yilmaz Z, Yurtcu E, Baskin E. Comparison of the results of PCR-RFLP and reverse hybridization methods used in molecular diagnosis of FMF. Genet Test 2008;12:171-4
  5. Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007;65:318-24
  6. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11
  7. Pasa S, Altintas A, Devecioglu B, Cil T, Danis R, Isi H, et al. Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid 2008;15:49-53
  8. Fragouli E, Eliopoulos E, Petraki E, Sidiropoulos P, Aksentijevich I, Galanakis E, et al. Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of 'intermediate risk'. Clin Genet 2008;73:152-9
  9. Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I. INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003;31:282-5
  10. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available from:
  11. Demirkaya E, Tunca Y, Gok F, Ozen S, Gul D. A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients. Clin Rheumatol 2008;27:729-32
  12. Duşunsel R, Dursun I, Gündüz Z, Poyrazoğlu MH, Gürgöze MK, Dundar M. Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int 2008;50:208-12
  13. Yigit S, Bagci H, Ozkaya O, Ozdamar K, Cengiz K, Akpolat T. MEFV mutations in patients with familial Mediterranean fever