نتایج جستجو برای: mlpa
تعداد نتایج: 902 فیلتر نتایج به سال:
MGMT downregulation in high-grade gliomas (HGG) has been mostly attributed to aberrant promoter methylation and is associated with increased sensitivity to alkylating agent-based chemotherapy. However, HGG harboring 10q deletions also benefit from treatment with alkylating agents. Because the MGMT gene is mapped at 10q26, we hypothesized that both epigenetic and genetic alterations might affect...
BACKGROUND Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with neg...
چکید ه سابقه و هدف بتا تالاسمی به طور عمده از جهش‌های نقطه‌ای یا حذف‌های کوچک ناشی می‌شود ولی مواردی از وجود حذف‌های بزرگ در خوشه ژنی بتاگلوبین مشاهده شده است. شناسایی حذف‌های شناخته شده مبتنی بر روش Gap PCR می‌باشد در حالی که حذف‌های ناشناخته با این روش شناسایی نمی‌شوند. برای فایق آمدن بر این محدودیت، دو روش کمی Real-time PCR و MLPA برای بررسی کمی خوشه ژنی بتاگلوبین به کار گرفته شد. مو...
The presence of a duplication as well as a triplication in one chromosome is a rare rearrangement and not easy to distinguish with routine chromosomal analysis. Recent developments in array technologies, however, not only allow screening of the whole genome at a higher resolution, but also make it possible to characterize complex chromosomal rearrangements in more detail. Here we report a molec...
مقدمه: حدود 78% درصد از کل بارداری ها و 15% از بارداری هایی که به صورت بالینی تشخیص داده می شوند به سقط منجر می گردند. ناهنجاری های کروموزومی عامل %50 این سقط ها هستند. تشخیص ناهنجاری های کروموزومی در محصولات حاملگی، به تعیین احتمال تکرار و نیز پیشگیری از آن در بارداری های آتی کمک خواهد کرد. به دلیل محدودیتهای موجود در تکنیک های سیتوژنتیک استاندارد جهت بررسی محصولات حاملگی، استفاده از تکنیک ه...
the autism spectrum disorders (asds) are common neurodevelopmental disorders estimated to affect 1 in 88 children. asd is a complex condition, result of genetic, epigenetic and environmental factors. however, genetic comopnent seems to play an important role. the loss/gain of 1kb and more nucleotides, copy number variation (cnv), is the significant genetic factor in the etiology of asd. the cnv...
BACKGROUND This is a retrospective cross sectional study aimed to verify whether Multiplex Ligation-dependent Probe Amplification (MLPA), a quantitative molecular assay, may represent a valuable reflex test in breast cancer with equivocal HER2 expression by immunohistochemistry and HER2 gene signals/nucleus (s/n) ranging between 4.0 and 5.9 by in situ hybridization. METHODS A series of 170 br...
Background: We performed large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients who were negative for as a result the Next Generation Sequencing (NGS) to determine prevalence and characteristics mutations. Material methods: studied with epithelial diagnosed at Korea Cancer Center since 2008, have confirmed germline BRCA through generation sequencing test our hospital. ...
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various comme...
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