بررسی موتاسیونهای نواحی کد کننده ژن کلرتیکولین در بیماران مبتلا به بیماری اسکیزوافکتیو با معیارهای تشخیصی DSM-IV-TR از دو کلینیک خصوصی درسال ۱۳۸۶-۱۳۸۷ شهرتهران
نام عام مواد
[پایاننامه]
عنوان اصلي به زبان ديگر
Mutations Analysis of the Core Promoter and Coding Sequence of the Calreticulin Gene in Patients Afflicted with DSM-IV-TR Diagnosed Schizoaffective Disorder from Tehran in 1386-1387
وضعیت نشر و پخش و غیره
نام ناشر، پخش کننده و غيره
علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
تاریخ نشرو بخش و غیره
، ۱۳۸۸
مشخصات ظاهری
نام خاص و کميت اثر
۱۰۰ص.
یادداشتهای مربوط به نشر، بخش و غیره
متن يادداشت
چاپی
یادداشتهای مربوط به پایان نامه ها
جزئيات پايان نامه و نوع درجه آن
کارشناسی ارشد
نظم درجات
ژنتیک genetic
کسي که مدرک را اعطا کرده
علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
یادداشتهای مربوط به خلاصه یا چکیده
متن يادداشت
p13.2 Materials and Methods: Seventy unrelated Iranian patients with schizoaffective disorder were recruited for the study from the Razi Psychiatric Center, Tehran, Iran. Patients were assessed for schizoaffective criteria using DSM-IV-TR. Three hundred unrelated Iranian controls were randomly selected as blood donors. Genomic DNA was extracted from peripheral blood using a standard protocol.The entire coding ,intronic/exonic boundaries are the regulatory region of the CALR gene were Screend by SSCA mutation detection technique. Samples displaying an altered PCR-SSCA pattern were reamplified by PCR with the same set of primers, and the PCR products were sequenced using an ABI PRISM terminator Cycle Sequencing.Results: .In the screening of the gene in seventy independent cases of schizoaffective disorder, we report novel germ-line mutations at positions -205 C>T and the conserved exon 5 (c: 682 C>T, pro228ser) In two unrelated cases of schizoaffective disorder. These mutations were disease specific, and, neither was detected in a control population of 300 individuals (OR=17.6)Conclusion: In an unprecedented finding, the present report of mutations in addition to the linkage and functional evidence provide the CALR gene as a promising candidate in the etiopathophysiology of shcizoaffective disorder. The consequences of these mutations remain to be clarified in the future studies.Key words: calreticulin , schizoaffective , mutationتwithin secretory pathways. The human gene for CALRcontains nine exons and eight introns and exists in a single copy on chromosome chromosome19 at locus p13.3 پquality controlب Introduction : Schizoaffective disorder is a condition in which there are symptoms of mood (affect) disorders, like depression or mania, and symptoms of schizophrenia present at the same time, or within a few days of each other. There is a 1 in 200 chance of developing schizoaffective disorder, which usually begins in late adolescence or early adulthood,. More women than men tend to suffer from schizoaffective disorder.Calreticulin is a 46-kDa Ca2+-binding chaperone found across a diverse range of species. The protein is involved in the regulation of intracellular Ca2+ homeostasis and endoplasmic reticulum (ER) Ca2+ storage capacity. Calreticulin is also an important molecular chaperone involved in
خط فهرستنویسی و خط اصلی شناسه
ba
عنوان اصلی به زبان دیگر
عنوان اصلي به زبان ديگر
Mutations Analysis of the Core Promoter and Coding Sequence of the Calreticulin Gene in Patients Afflicted with DSM-IV-TR Diagnosed Schizoaffective Disorder from Tehran in 1386-1387
موضوع (اسم عام یاعبارت اسمی عام)
موضوع مستند نشده
calreticulin
مقوله موضوعی
متن عنصر شناسه ای مقوله موضوعی
کلرتیکولین
متن عنصر شناسه ای مقوله موضوعی
calreticulin
نام شخص به منزله سر شناسه - (مسئولیت معنوی درجه اول )