عنوان
پدید آورنده
موضوع
رده
کتابخانه
محل استقرار
IR
۱۳۶۶پ
فارسی
IR
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
[پایان‌نامه]
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
علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
، ۱۳۸۸
۱۰۰ص.
چاپی
کارشناسی ارشد
ژنتیک genetic
علوم بهزیستی وتوانبخشی university of social welfare and rehabilitation))
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
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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
calreticulin
کلرتیکولین
calreticulin
اولادنبی دوزین، مرتضی
Oladnabi dozin, Morteza
اوحدی،مینا
خرم خورشید، حمیدرضا
ایران
دانشگاه علوم توان بخشی و سلامت اجتماعی
1366..pdf
محرمانه
محرمانه
13661.pdf
2112956
مرجع
متن
0
۶۶۳۱پایا
محل نگهداری: دانشگاه علوم بهزیستی وتوانبخشی
نمایه‌سازی قبلی
چاپی-الکترونیکی
TF
1
a
Y
