MANİSA’DA ŞİZOFREN HASTALARIN SİTOGENETİK ANALİZİ VE POLİMERAZ ZİNCİR REAKSİYONU İLE COMT( 21q11.2 ) GENİNİN TEŞHİSİ

Öz

Şizofreni birçok davranış ve düşünce bozukluğuna neden olan çok sistemli psikiyatrik bozukluklardan biridir. Erken yaşlarda başlayarak hayat boyu süren, sonlanımı kötü olan bir hastalıktır. Biyokimyasal, anatomik ve genetik alanlardaki birçok ilerlemelere karşın şizofreni kendine özgü yaşantıları ve davranışsal belirtileri olan ve ancak bu belirtilerin gözlenmesi ile tanı konabilen bir hastalık olarak kalmaya devam etmektedir. Çalışmamızın amacı, DSM-IV (Ruhsal Bozuklukların Tanısal ve Sayımsal El Kitabı) kriterlerine göre şizofreni tanısı konmuş 50 hastanın (25 kadın ve 25 erkek) sitogenetik analizlerini yaparak, sayısal ve yapısal kromozom anomalilerini belirlemek ve Polimeraz Zincir Reaksiyonu (PZR) yöntemi ile 22q11.2 bölgesindeki cathecol-O-methyltransferase belirlemektir. Araştırmamızın sitogenetik analizinde lenfosit kültürü ve Giemsa-Tripsin (GTG) bantlaması yapılarak ışık mikroskobunda incelendi. Genomik DNA, periferik kandan Nucleospin izolasyon kiti ile elde edildi. Oligonukleotid primerler kullanılarak PZR yöntemi ile kromozom 22q11.2 bölgesindeki 109 baz çifti uzunluğundaki COMT geni elde edildi. PZR ürünü, %2 lik agaroz jelde yürütülüp jel görüntüleme sisteminde resimlendi. Bu ön çalışmada Manisa’da yaşayan şizofren hastalarda şizofrene yatkınlıkta aday genlerden cathecolO-methyltransferase (COMT) olarak kodlanan COMT (22.q11.2) geni saptanmış oldu

Anahtar Kelimeler

• Şizofreni, 22q11.2 mikrodelesyonu, PZR, COMT

Identification of COMT Gene ( 22q11.2 ) by Polymerase Chain Reaction and Cytogenetic Analysis in Patients with Schizophrenia in Manisa

Öz

Schizophrenia is one of the multisystemic diseases that cause many behavioral and thinking problems. It is an evil disease that begins in the childhood and goes till the end of life. Although there are lots of advances in biochemical, anatomical and genetical areas, schizophrenia remains to be a disease with its unique characteristics having its own life and behavioral symptoms. It is by means of observing these symptoms that the aim of our study is to determine the numerical or structural abnormalities with the disease is diagnosed cytogenetic analysis of 50 patients (25 female, 25 male) who were diagnosed as schizophrenia by using the DSM-IV (Diagnostic and Statistical Manual of Mental Disorders), criteria and to identify the CathecolO-Methyltransferase (COMT) gene on 22q11.2 region by using Polymerase Chain Reaction (PCR) method. In cytogenetic analyse of our study lymphocyte culture and Giemsa-Tripsin (GTG) banding have been done and examined under light microscope. Genomic DNA was extracted from peripheral blood by using Nucleospin isolation kits. COMT gene which is 109 bp lenght and belongs to 22q11.2 chromosome is duplicated by PCR method using oligonucleotid primers. PCR product has been performed in %2 agarose gel and imaged by gel screening system. With this preliminary study the COM (22.q11.2) gene encoding cathecol-O-methyltransferase (COMT) a functional candidate gene for schizophrenia, was found in the patients with schizophrenia who were living in Manisa province

Anahtar Kelimeler

• Schizophrenia, 22q11.2 microdeletion, PCR, COMT

Kaynakça

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