Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations
| Autor: | Mustafa Keles, Zeynep Gul, Omer Faruk Bayrak, İbrahim Pirim, Mucahit Emet, Sukru Gulluoglu, Hasan Dogan |
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| Přispěvatelé: | Dogan, H., Faruk Bayrak, O., Emet, M., Keles, M., Gulluoglu, S., Gul, Z., Pirim, I., Yeditepe Üniversitesi |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Adolescent Turkey DNA Mutational Analysis Mutation Missense MEFV Familial Mediterranean fever Gene mutation Biology medicine.disease_cause DNA sequencing Young Adult Exon symbols.namesake FMF Gene Frequency Genetics medicine Humans Child Gene Genetic Association Studies Aged Sanger sequencing Mutation Rare mutation Infant General Medicine Middle Aged Pyrin medicine.disease Familial Mediterranean Fever Cytoskeletal Proteins Child Preschool symbols Female |
| Zdroj: | Gene. 568:170-175 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2015.05.045 |
| Popis: | We aimed to determine the frequency of mutations, carrier rates and the association of rare mutations with Familial Mediterranean Fever (FMF) symptoms. There is a need to evaluate as many different populations as possible in order to determine either specific rare mutations or a range of disease-associated mutations. The demographic data and FMF symptoms related to MEFV gene mutations were collected from 731 participants. Exon 2 and exon 10 of the MEFV gene were tested by DNA sequencing. The rare mutations were identified as: M694I (1.1%, n = 12), E148V (0.6%, n = 6), T267I (0.5%, n = 5), L110P (0.2%, n = 2), E167D (0.2%, n = 2), K695R (0.1%, n = 1) and an insertion G (Guanine) mutation (0.4%, n = 4) at the 777th codon of exon 10. We used routine comprehensive detection systems such as Sanger sequence that can catch rare mutations, for definite diagnosis and treatment of FMF disease. © 2015. |
| Databáze: | OpenAIRE |
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