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2009, Cilt 7, Sayı 3, Sayfa(lar) 075-080
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Frequency and Distribution of Most Commonly Seen HLA Mutations in Coeliac Disease Patients in Tokat Region
Hüseyin Özyurt1, Şemsettin Şahin1, Aziz Fikret Özuğurlu1, Ömer Atış1, İsmail Benli1, Leyla Aydoğan1, Beytullah Yıldırım2, Resul Yılmaz3
1Gaziosmanpaşa Üniversitesi Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı,Tokat
2Gaziosmanpaşa Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tokat
3Gaziosmanpaşa Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Tokat
Keywords: Coeliac disease, HLA gene, gluten enteropathy

Objective: Coeliac disease is an autoimmune enteropathy constituted by the immun system and in genetically susceptible patients it is triggered by the consumption of gluten containing wheat, barley and rye made foods. Coeliac d isease is the only lifelong food allergy. Coeliac disease is a multygene disease and has a close relationship with human leukocyte antigens (HLA). The cases can be asymphomatic and clinically it can be in a wide range. Because of delay in diagnosis patients can die. Coeliac disease can cause high morbidity and mortality before diagnosis but after diagnosis it is no more a disease. It becomes a lifestyle.

Material and Methods: In this study in Tokat region in 192 patients who attended to our clinic with dierrhae, abdominal pain, growth retardation the most commonly seen 3 mutations in HLA gene have been screened. And the results were compared with classical data. Mutations analyses of HLA gene were carried out with GenID which is a stripped coeliac disease mutation screening kit. Strip mutation analyze is a method that can determine the large numerous mutations on genes associated with some diseases such as Cardiovascular disease (CVD) and FMF

Results: In 100 of patients mutation DQA1*0501, in 54 of patients mutation DQB1*0201, in 53 of patients mutation DRB1*04 has been detected. In 6 (3.13%) patients all three mutations have been detected. The number of patients in whom no mutation has been detected was 39 (20.34%).

Conclusion: In 153 patients (79.69%) out of 192 included in this study at least one mutation has been detected.


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