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Molecular analyses of MEFV gene mutation variants in Turkish population.
Aksoy, Rahime; Us, Ebru; Aksoy, Darya Farhoomand; Dumlupinar, Ebru; Turgay, Tahsin Murat.
Afiliación
  • Aksoy R; Department of Hematology, Faculty of Medicine, Ankara University, Ankara, Türkiye. rahimeaksoy77@yahoo.com.
  • Us E; Department of Medical Microbiology, Faculty of Medicine, Ankara University, Ankara, Türkiye.
  • Aksoy DF; Department of Biology, Faculty of Science, Ankara University, Ankara, Türkiye.
  • Dumlupinar E; Department of Biostatistics, Faculty of Medicine, Ankara University, Ankara, Türkiye.
  • Turgay TM; Department of Rheumatology, Faculty of Medicine, Ankara University, Ankara, Türkiye.
Mol Biol Rep ; 51(1): 844, 2024 Jul 23.
Article en En | MEDLINE | ID: mdl-39042260
ABSTRACT

BACKGROUND:

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease primarily affecting individuals of Turkish, Armenian, Arab, and non-Ashkenazi Jewish descent, caused by mutations in the MEFV gene. The aim of this study was to review the common genotype distributions of MEFV variants and mutations in the Turkish population and evaluate rare mutations. METHODS AND

RESULTS:

The study included 2984 patients who applied to Ankara University Ibni Sina Hospital Immunology Laboratory with clinical suspicion of FMF between 2004 and 2014. The data of patients from different regions of the country who were followed up in the immunology-rheumatology clinic with clinical suspicion and presumptive diagnosis of FMF were evaluated retrospectively. Patients were tested for all mutations in Exon 2 and Exon 10, including M694V, M680I, M694I, V726A, E148Q and R202Q. There were 2504 patients with FMF variant. According to genotyping, R202Q (n = 1567, 39.2%) was the most common mutation. The most common co-variant was the R202Q/M694V genotype (n = 507, 16.98%). Allele frequencies for MEFV mutations were as follows R202Q (n = 1567, 39.2%), M694V (n = 1004, 25.1%), E148Q (n = 463, 11.5%), M680I (n = 354, 8.8%), V726A (n = 319, 7.9%), A744S (n = 51, 1.2%), R761H (N = 41, 1.0%), P706P (N = 25, 0.6%), E167D (N = 23, 0.5%), M694I (N = 23, 0.5%), and K695R (N = 20, 0.5%).

CONCLUSION:

This research revealed the prevalence of both common and rare MEFV gene mutations in Turkish FMF patients in various age groups. R202Q was the most prevalent mutation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fiebre Mediterránea Familiar / Pirina / Frecuencia de los Genes / Genotipo / Mutación Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Biol Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fiebre Mediterránea Familiar / Pirina / Frecuencia de los Genes / Genotipo / Mutación Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Biol Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos