Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene
Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called “attacks”. In...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2018-04-01
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| Series: | Haseki Tıp Bülteni |
| Subjects: | |
| Online Access: | http://www.hasekidergisi.com/archives/archive-detail/article-preview/ailevi-akdeniz-ateinde-molekler-tan-deneyimi-mefv-/16950 |
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| author | Ender Coşkunpınar Ayla Özvarnalı Kıvanç Çefle Ayşe Palanduz Ahmet Gül Derya Öztürk Şükrü Öztürk Şükrü Palanduz |
| author_facet | Ender Coşkunpınar Ayla Özvarnalı Kıvanç Çefle Ayşe Palanduz Ahmet Gül Derya Öztürk Şükrü Öztürk Şükrü Palanduz |
| author_sort | Ender Coşkunpınar |
| collection | DOAJ |
| description | Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called “attacks”. In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population.
Methods: Thousand eight hundred and forty patients with an initial diagnosis of FMF were enrolled in the study. DNA was extracted from the peripheral blood according to the kit protocol. Twenty-two target sequences of the MEFV gene were amplified with polimeraze chain reaction and sequenced with the pyrosequencing method.
Results: When the patients were divided into two groups according to age, the mean age of 866 patients was 8.5±7.5 years in <18 age group, and that of 974 patients was 35.4±12.5 years in ≥18 age group. No mutations associated with FMF were found in 547 of patients in <18 age and 479 of the patients in ≥18 age groups.
Conclusion: In the present study, we evaluated the frequency of 22 mutations in MEFV in 1840 patients, who had been admitted to the medical genetics division between the years 2014 and 2016 with an initial diagnosis of FMF. Analysis of our findings showed that our data are in agreement with previous publications concerning Turkish population. |
| first_indexed | 2024-04-10T12:29:55Z |
| format | Article |
| id | doaj.art-90007ff78b67429ca45b4e32e8c17447 |
| institution | Directory Open Access Journal |
| issn | 1302-0072 2147-2688 |
| language | English |
| last_indexed | 2024-04-10T12:29:55Z |
| publishDate | 2018-04-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Haseki Tıp Bülteni |
| spelling | doaj.art-90007ff78b67429ca45b4e32e8c174472023-02-15T16:14:58ZengGalenos YayineviHaseki Tıp Bülteni1302-00722147-26882018-04-01561424910.4274/haseki.42714Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV GeneEnder Coşkunpınar0Ayla Özvarnalı1Kıvanç Çefle2Ayşe Palanduz3Ahmet Gül4Derya Öztürk5Şükrü Öztürk6Şükrü Palanduz7İstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Aile Hekimliği Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Romatoloji Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, Türkiyeİstanbul Üniversitesi İstanbul Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tıbbi Genetik Bilim Dalı, İstanbul, TürkiyeAim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called “attacks”. In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population. Methods: Thousand eight hundred and forty patients with an initial diagnosis of FMF were enrolled in the study. DNA was extracted from the peripheral blood according to the kit protocol. Twenty-two target sequences of the MEFV gene were amplified with polimeraze chain reaction and sequenced with the pyrosequencing method. Results: When the patients were divided into two groups according to age, the mean age of 866 patients was 8.5±7.5 years in <18 age group, and that of 974 patients was 35.4±12.5 years in ≥18 age group. No mutations associated with FMF were found in 547 of patients in <18 age and 479 of the patients in ≥18 age groups. Conclusion: In the present study, we evaluated the frequency of 22 mutations in MEFV in 1840 patients, who had been admitted to the medical genetics division between the years 2014 and 2016 with an initial diagnosis of FMF. Analysis of our findings showed that our data are in agreement with previous publications concerning Turkish population.http://www.hasekidergisi.com/archives/archive-detail/article-preview/ailevi-akdeniz-ateinde-molekler-tan-deneyimi-mefv-/16950Familial Mediterranean FeverMEFV genepyrosequencingmutation |
| spellingShingle | Ender Coşkunpınar Ayla Özvarnalı Kıvanç Çefle Ayşe Palanduz Ahmet Gül Derya Öztürk Şükrü Öztürk Şükrü Palanduz Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene Haseki Tıp Bülteni Familial Mediterranean Fever MEFV gene pyrosequencing mutation |
| title | Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene |
| title_full | Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene |
| title_fullStr | Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene |
| title_full_unstemmed | Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene |
| title_short | Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene |
| title_sort | molecular diagnosis experience in familial mediterranean fever the most frequent mutations in the mefv gene |
| topic | Familial Mediterranean Fever MEFV gene pyrosequencing mutation |
| url | http://www.hasekidergisi.com/archives/archive-detail/article-preview/ailevi-akdeniz-ateinde-molekler-tan-deneyimi-mefv-/16950 |
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