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Ailesel akdeniz ateşi ön tanısı alan olgularda MEFV gen mutasyon analiz sonuçlarının önemi

Yalçınkaya, Emre | Güran, Şefik | Nas, Burcu Gülay | Dursun, Ahmet | İmirzalıoğlu, Necat

Article | 2006 | Erciyes Tıp Dergisi28 ( 1 ) , pp.19 - 24

Amaç: Sunulan çalışmada Ailesel Akdeniz Ateşi (AAA) ön tanısı almış hastalarda“familial Mediterranean fever locus”-MEFV gen mutasyonlarının araştırılması amaçlanmıştır. Gereç ve yöntem: AAA ön tanısı konan 83 olguda MEFV geninde en sık mutasyon tanımlandığı bildirilen M680I, M694V, V726A ve E148Q mutasyonları PCR amplifikasyon sonrası kit kullanılarak (PRONTOTM AAA Basic) incelenmiştir. Bulgular: Değerlendirilen 83 olgunun 29’ unda bu bölge için mutasyon tanımlanamazken 54 olguda mutasyon tanımlanmıştır (%65). Olguların 14’ ünde homozigot mutasyon bulunmuştur (%17). Homozigot mutasyon bulunan 14 olgunun dördünde M680I/M680I, onunda . . .M694V/M694V saptanmıştır. Sonuçlar klinikte daha ağır tablo ile seyrettiği ileri sürülen M694V ve M680I mutasyonlarının bizim içinde bulunduğumuz toplumda çok sık gözlendiğini göstermektedir. 40 (%48) olguda heterozigot mutasyon tanımlanmıştır. Heterozigot mutasyon tanımlanan 40 olgunun yedisinde bu gene ait iki mutasyon gözlenmiştir-“compaund heterozygote” (M680I/M694V iki olguda, M694V/V726A üç olguda, E148Q/M694V bir olguda, M680I/V726A bir olguda). Sonuç: Bulgular toplumumuzda MEFV genine ait mutasyonların yüksek taşıyıcılık oranını göstermesi yönünden ilgi çekicidir. Günümüzde AAA tanısında MEFV gen mutasyonlarının bulunması önemli bir tanı kriteridir. Purpose:In this study we aimed to determine “familial mediterranean fever locus” MEFV gene mutation in cases with a prediagnosis of familial mediterranean fever (FMF). Material and methods: MEFV mutations reported as being frequently seen (M680I, M694V, V726A and E148Q) were analyzed with PCR amplification kit (PRONTOTM FMF Basic, Savyon Diagnostic Ltd.) in 83 cases who were suspected of having FMF. Results: In 29 out of 83 cases, no mutations were observed whereas in 54 (65%) out of 83 cases, mutations in MEFV locus were observed. In 14 cases (%17), homozygote mutation of one locus was found. M680I/M680I homozygote mutation was observed in four cases and M694V/M694V homozygote mutation in ten cases. These results demonstrate that M694V and M680I (these mutations are suggested to have more serious clinic patterns) mutations are seen frequently in our country. Forty cases (48%) had heterozygote mutations in MEFV gene. Seven out of 40 cases had compound heterozygote mutations (M680I/M694V mutations in 2 cases, M694V/V726A mutations in three cases, E148Q/M694V mutations in one case, and M680I/V726A mutations in one case). Conclusion: Our results represent a high carrier rate of mutations in MEFV gene in our country. In our era, genetic analysis of MEFV gene is an important diagnostic criteria for the FMF disease Daha fazlası Daha az

Genetic analysis of MEFV gene pyrin domain in patients with Behcet's disease

Dursun, Ahmet | Durakbasi-Dursun, Hatice Gul | Zamani, Ayse Gul | Gulbahar, Zerrin Gulin | Dursun, Recep | Yakicier, Cengiz

Article | 2006 | MEDIATORS OF INFLAMMATION , pp.19 - 24

Objectives. Behcet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or inserti . . .on mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated. Copyright (c) 2006 Ahmet Dursun et al Daha fazlası Daha az

Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: Fok-I genotype is related to postmenopausal bone mass in essantial hypertension

Sarikaya, Selda | Kulah, Eyup | Ozdolap, Senay | Dursun, Ahmet | Bozdogan, Sevcan

Conference Object | 2006 | NEPHROLOGY DIALYSIS TRANSPLANTATION21 , pp.344 - 344

43rd ERA-EDTA Congress -- JUL 15-18, 2006 -- Glasgow, SCOTLAND WOS: 000239919002232

Effect serum and angiotensin-converting enzyme gene polymorphism, on ambulatory blood pressure changes and Vitamin D levels in essantial hypertension

Kulah, Eyup | Dursun, Ahmet | Aktunc, Erol | Acikgoz, Serefden | Can, Murat | Dursun, Aydin | Aydin, Mustafa

Conference Object | 2006 | NEPHROLOGY DIALYSIS TRANSPLANTATION21 , pp.341 - 341

43rd ERA-EDTA Congress -- JUL 15-18, 2006 -- Glasgow, SCOTLAND WOS: 000239919002223

Association of angiotensin converting enzyme gene polymorphism and affective disorders in Turkish patients

Konuk, Numan | Atik, Levent | Şimşekyılmaz, Özge | Dursun, Ahmet | Açıkgöz, Şereften

Letter | 2006 | Australian and New Zealand Journal of Psychiatry40 ( 8 ) , pp.717 - 718

[No abstract available]

Bilateral multicystic renal dysplasia with potter sequence - A case with penile agenesis

Dursun, Ahmet | Ermis, Bahri | Numanoğlu, Kemal Varın | Bahadır, Burak | Seçkiner, İlker

Article | 2006 | SAUDI MEDICAL JOURNAL27 ( 11 ) , pp.1745 - 1747

Hereditary renal adysplasia (HRA) is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dyspla . . .sia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis Daha fazlası Daha az

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