en تخصصي Association study پژوهشي Research <span style="font-size:11pt"><span style="background:white"><span style="font-family:Calibri,sans-serif"><span style="font-size:14.0pt"><span style="background:#eff2f7"><span new="" roman="" style="font-family:" times="">Abstract</span></span></span></span></span></span><br> <span style="font-size:11pt"><span style="font-family:Calibri,sans-serif"><b><span style="font-size:12.0pt"><span style="background:#eff2f7"><span style="font-family:"Times New Roman",serif"></span></span></span></b></span></span><br> <span style="font-size:12pt"><span new="" roman="" style="font-family:" times=""><strong><span style="color:#0e101a">Background</span></strong><span style="color:#0e101a">: 22q11.2 deletion is a common microdeletion, and about 30% of patients with 22q11.2 deletion develop schizophrenia. PRODH is one of the genes located in 22q11.2 and encodes the proline oxidase enzyme (POX) in the mitochondrial inner membrane and is expressed in the skin, liver, kidney, and brain. The PRODH gene&#39;s polymorphisms in increasing the risk of getting afflicted with schizophrenia have been demonstrated in previous Linkage and Association studies. Proline dehydrogenase enzyme (POX) &#39;s role is to catalyze proline&#39;s conversion into glutamate. Reduced enzyme leads to increased proline and decreased glutamate and resulting in hyperprolinemia. It has been proven that P19Q mutation in PRODH declines pox enzyme activity and is associated with schizophrenia disorder.&nbsp;</span></span></span><br> <span style="font-size:12pt"><span new="" roman="" style="font-family:" times=""><strong><span style="color:#0e101a">Objectives</span></strong><span style="color:#0e101a">: In the present study, the rs2008720 variant in the PRODH gene was genotyped in 100 schizophrenic patients whose diseases were confirmed by experts and in 100 healthy people without any history of schizophrenia and bipolar disorder in their pedigree.&nbsp;</span></span></span><br> <span style="font-size:12pt"><span new="" roman="" style="font-family:" times=""><strong><span style="color:#0e101a">Methods</span></strong><span style="color:#0e101a">: To identify this variant, the PCR-RFLP technique has been adopted. The association of mutant and normal variants between the two groups afflicted with the disease and non-afflicted with the disease has been analyzed by SPSS 16 software.&nbsp;</span></span></span><br> <span style="font-size:12pt"><span new="" roman="" style="font-family:" times=""><strong><span style="color:#0e101a">Results</span></strong><span style="color:#0e101a">: According to our results, we found no association between P19Q missense mutation and schizophrenia disorder in Iranian patients. So the P19Q missense mutation could not be considered co-related with the increasing risk of schizophrenia in Iranian patients.&nbsp;</span></span></span><br> &nbsp; Schizophrenia, Single Nucleotide Polymorphism, Proline Dehydrogenase 0 0 http://humangeneticsgenomics.ir/browse.php?a_code=A-10-352-1&slc_lang=en&sid=1 Shohreh Zare Karizi shohrehzare@yahoo.com 1003194753284600368 1003194753284600368 Yes - Department of Biology, Islamic Azad University, Varamin-Pishva Mahdiyeh Sadat Mahdavi mah.sdt.mahdavi@gmail.com 1003194753284600369 1003194753284600369 No Department of Biology, Science and Research Branch, Islamic Azad University, Tehran- Iran Mahgol Sadat Sabet Mahgol.sabet@yahoo.com 1003194753284600370 1003194753284600370 No Department of Biology, East Tehran Branch, Islamic Azad University, Tehran- Iran