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Journals / Türk Klinik Biyokimya Dergisi / 2014 / Cilt: 12 - Sayı: 3

Incidance of Familial Mediterranean Fever (FMF) Gene Mutations in Children in Van Region

Van ve Çevresindeki Çocuklarda Ailesel Akdeniz Ateşi Gen Mutasyonlarının Sıklığı

Mehmet Ramazan ŞEKEROĞLU
Haluk DÜLGER
Ruşen KÖÇEROĞLU
Ragıp BALAHOROĞLU
Erdem ÇOKLUK
Pages
125–130
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

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

Conclusion: The results of this study have supported the heterogeneity of the mutation of MEFV gene in patients with FMF and have shown that our patients have a wide range of mutations

📌 3 Key Takeaways

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Objective & Hypothesis:Background: Familial Mediterranean Fever (FMF) is an autosomal recessive disease and it is characterized by recurrent inflammatory attacks of the serous membranes which cause periodic abdominal pain, fever and joint pain.
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Key Findings & Data:The aim of this study was to screen MEFV gene for 12 mutations in children diagnosed with FMF and to detect alleles which were most frequently observed.
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Conclusion & Impact:Conclusion: The results of this study have supported the heterogeneity of the mutation of MEFV gene in patients with FMF and have shown that our patients have a wide range of mutations
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Background: Familial Mediterranean Fever (FMF) is an autosomal recessive disease and it is characterized by recurrent inflammatory attacks of the serous membranes which cause periodic abdominal pain, fever and joint pain. The mutations in the gene of MEFV have been determined to be responsible for the disease. The aim of this study was to screen MEFV gene for 12 mutations in children diagnosed with FMF and to detect alleles which were most frequently observed. Materials and methods: The study included 157 patients aged 5-15 years. The patients were divided into two groups as active (n = 81) and passive (n = 76) according to their clinical findings. Mutations of MEFV gene in patients were examined by analysis of reverse hybridization. Results: 66,87% of the total patients had mutation, of which 42,7% had heterozygous, 11,5% compound heterozygous and 12,7% homozygous mutations. The most frequently observed mutations were E148Q heterozygous (22,92%), M694V homozygous (10,82%) and M694V heterozygous (8,28%). The alleles which were detected most were M694V (40,0%), E148Q (32,41%) and V726A (11,72%). Conclusion: The results of this study have supported the heterogeneity of the mutation of MEFV gene in patients with FMF and have shown that our patients have a wide range of mutations

Özet

Amaç: Ailesel Akdeniz Ateşi (AAA) otozomal resesif bir hastalık olup, periyodik karın ağrısı, ateş ve eklem ağrısına yol açan seröz membranların tekrarlayan inflamatuar ataklarıyla karakterizedir. MEFV genindeki mutasyonların hastalıktan sorumlu olduğu gösterilmiştir. Bu çalışmada Van ve çevresinde AAA tanısı ile takip edilen çocukların, MEFV geninin 12 mutasyonu açısından taranarak tekli veya birleşik mutasyonların oranlarının saptanması ve mutant bireyler içindeki homozigot ve heterozigot oranının tespiti amaçlanmıştır. Gereç ve yöntem: Bu amaçla 5-15 yaşlarında 157 hasta çalışmaya alındı. Hastalar klinik bulgularına göre aktif (n=81) ve pasif (n=76) grup olarak ikiye ayrıldı. Hastalarda revers hibridizasyon analizi ile MEFV gen mutasyonları incelendi. Bulgular: Hastaların %42,7'sinde heterozigot, %11,5'inde birleşik heterozigot ve %12,7'sinde homozigot olmak üzere toplam %66,87'sinde mutasyon saptandı. E148Q heterozigot (%22,92), M694V homozigot (%10,82) ve M694V heterozigot (%8,28) mutasyonları en sık izlenen mutasyonlardı. En sık tespit edilen alleller ise M694V (%40,0), E148Q (%32,41) ve V726A (%11,72) idi. Sonuç: Bu çalışmanın sonuçları AAA'lı hastalarda MEFV gen mutasyonundaki heterojeniteyi desteklemiş ve hastalarımızın geniş bir mutasyon yelpazesine sahip olduğunu göstermiştir

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Cite This Article

ŞEKEROĞLU, M. R., DÜLGER, H., KÖÇEROĞLU, R., BALAHOROĞLU, R., ÇOKLUK, E. (2022). Incidance of Familial Mediterranean Fever (FMF) Gene Mutations in Children in Van Region. Türk Klinik Biyokimya Dergisi, Cilt: 12 - Sayı: 3, 125–130. https://ajindex.com/articles/628063

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