OBJECTIVES:Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) is a newly defined disease in neuropsychiatry and occurs with an autoimmune mechanism after Group A Beta Hemolytic Streptococcus (GABHS) infection. Tumor necrosis factor (TNF), encoded by TNF-α gene has an important role in the apoptotic mechanisms of autoimmune diseases. Recently, TNF-α polymorphisms and autoimmune/psychiatric disorders have been reported to be related. In this regard, we focused on to investigate a possible relation between the TNF-α gene promoter region−308 G/A and − 850 C/T polymorphisms and PANDAS.MATERIALS AND METHODS:In this study, ages of PANDAS patient and control groups were ranging from 4 years to 12-year-old. Patient group includes childhood onset PANDAS patients (n = 42) and control group includes healthy children (n = 58). Diagnoses have been carried out according to Diagnostic and Statistical Manual of Mental Disorder (DSM-IV) criteria with Affective Disorders and Schizophrenia-Present and Lifetime (KSAD-S-PL) and Children Yale-Brown Obsessive Compulsive Scale Moreover, PANDAS criteria established by the American National Psychiatry Institute have been employed for diagnoses. For identifying polymorphisms; Polymerase Chain Reaction, Restriction Fragment Length Polymorphism and Polyacrylamid Gel Electrophoresis were used.RESULTS AND DISCUSSION:For −308 polymorphism, 37 of 42 PANDAS patients’ results and for −850 C/T polymorphism, 38 of 42 PANDAS patients’ results were obtained. According to our statistical analysis there is a positive relationship between PANDAS patients for −308 G/A polymorphism but not for −850 C/T polymorphism. There is no positive relationship between −308 G/A polymorphism and antistrep-tolysin O (ASO) titers and no relationship between −850 C/T polymorphism and ASO titers. We found, however, positive relationship between genders of patients (boys) and the disease. According to our results, we propose that the AA polymorphism of −308 G/A polymorphism can be used as a molecular indicator for PANDAS.

Obsessive compulsive disorder (OCD) is a neurobiological disease characterized with obsessions and compulsions. Obsessive compulsive disorder occurs with an autoimmune mechanism after Group A β hemolytic streptococcus (GABHS) infection. Tumor necrosis factor (TNF) is an important cytokine, as well as having an important role in the apoptosis mechanism of autoimmune diseases. It is expressed by the TNF-α gene. The aim of this study was to examine the relationship between the TNF-α gene promoter region −308 (G>A) and −850 (C>T) polymorphisms and OCD. In this study, ages of the OCD patients and the control group ranged between 4 and 12 years. We studied two patient groups, one included childhood onset OCD patients (n = 49) and the control group was composed of healthy children (n = 58). Patients were diagnosed according to the Diagnostic and Statistical Manual of Mental Disorder (DSM-IV) criteria and with Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime (KSAD-S-PL) version. For identifying the polymorphisms, polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and polyacrylamide gel electrophoresis (PAGE) methods were used.For the −308 polymorphism, 45 of 49 OCD patients’ results were completed, and for the −850 polymorphism, 47 of 49 OCD patients’ results were completed. According to our statistical results, there is a positive relationship between OCD and the −308 polymorphism (p <0.001) but no association between OCD and the −850 polymorphism (p = 0.053). There is no positive relationship between antistreptolysin O (ASO) titers and the −308 polymorphism (p = 0.953) but there is an important significance between the −850 polymorphism and ASO (p = 0.010). There is no positive relationship between gender of patients and OCD (p = 0.180) and no positive association between ASO and gender (p = 0.467). According to our results, we hypothesize that we can propose the mutant AA genotype for the −308 polymorphism, and that the mutant CT genotype for the −850 polymorphism may be used as molecular indicators for OCD.

A AB BS S T TR RA AC CT T O Ob b j je ec c t ti i v ve e: : The p53 tu mo ur sup pres sor ge ne plays an im por tant ro le in the re gu la ti on of cell pro li fe ra ti on. It is lo ca ted on the short arm of the 17th chro mo so me. It has 11 exons and en codes for a tu mor sup pres sor pro te in cal led p53 which is 53kD in we ight and 393 ami no acids in length. This pro te in, a trans crip ti on fac tor, is an im por tant re gu la tor of cell cycle. Up to da te, a num ber of mu ta ti ons (75 % of which are fo und bet we en co don 26 and 332) ha ve be en de tec ted on p53 ge ne. Recent re se arc hes sho wed that lung ne op lasm re sul ting from the mu ta ti ons of p53 ge ne va ri ed bet ween 33% (ade no car ci no ma) and 70% (small cell lung can cer), and it is re por ted that the hot spots were ma inly fo und at the co dons 175, 248, and 273. M Ma a t te e r ri i a al l a an nd d M Me et t h ho od ds s: : In this study, the exons, exonin tron junc ti ons, and so me in tron re gi ons, which are lo ca ted bet we en exon 4-9 of p53 ge ne, of 24 pati ents who had a sur gi cal ope ra ti on du e to a lung mass we re exa mi ned by au to ma tic DNA se qu en cing in Uni ver sity of Le ip zig. R Re e s su ul lt ts s: : 53 mis sen se and 7 fra mes hift mu ta ti ons we re de tec ted bet we en 4 th and 9 th exons (Co dons 36-318) of 18 samp les among the 24 samp les. Fifty five of the se mu ta ti ons were he te rozy go us, and five of them were ho mozy go us. Si mi larly, 12 mis sen se mu ta ti ons de tec ted as a re sult of the se ri al analy ses of the re gi on bet we en in trons 4-9, and seven of them we re he te rozy gous and 5 we re ho mozy go us. C Co on nc c l lu u s si i o on n: : So me re se arch re gar ding p53 ge ne re por ted that co don 175, 248, and 273 were hot spots and mu ta ti ons were fre qu ent in the se co dons. Ho we ver we ha ve not seen any mu ta ti ons in any of the se co dons in our study. Nuc le o ti de chan ges at the po si ti ons 13432 (5' be gin ning) and 13999 (3' en ding) of 6th in tron, which are very im por tant re gi ons, may re sult in the for ma ti on of an ab nor mal pro te in. We sup po se that ot her nuc le o ti de chan ges are not very im por tant du e to the ir he te rozy go us na tu re and lo ca ti on. K Ke ey y W Wo or rd ds s: : Lung ne op lasms; ge nes, p53; se qu en ce analy sis, DNA Ö ÖZ ZE ET T A Am ma aç ç: : p53 tü mör bas kı la yı cı ge ni hüc re ço ğal ma sı nın dü zen len me sin de önem li rol oy nar. 17. kro mo zo mun kı sa ko lun da yer leş miş tir. 11 ek so nu var dır ve 53 kD ağır lı ğın da ve 393 ami noasit uzun lu ğun da olan p53 şek lin de isim len di ri len bir tü mör bas kı la yı cı ge ni şif re ler. Bir trans krip si yon fak tö rü olan bu pro te in hüc re dön gü sü nün önem li bir dü zen le yi ci si dir. Bu gü ne ka dar p53 ge nin de (%75'i ko don 26 ve 332 ara sın da olan) bir ta kım mu tas yon lar sap tan mış tır. Son za man lar da ya pı lan araş tır ma lar gös ter miş tir ki p53 ge nin de ki mu tas yon lar dan kay nak la nan ak ci ğer kit le le ri %33 (ade...