Extra Alleles in Triple-Primed PCR

The objectives of this study were to determine the cause of these extra peaks; to identify whether these peaks represent an assay specific artifact, an underlying chromosome aneuploidy, or somatic mosaicism; and to ascertain their clinical relevance. The presence of an extra allele(s) was confirmed by a laboratory-developed PCR, with sequencing of the FMR1 5′ UTR or Southern blot for some samples.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular article Source Type: research

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Publication date: Available online 19 February 2020Source: NeuroscienceAuthor(s): Vishnu Shandilya M C, Akash GautamAbstractActivity-regulated cytoskeleton-associated (Arc) gene is one of the effector neuronal immediate early genes (IEG) that is rapidly upregulated after neuronal activation and is involved in synaptic long-term potentiation and depression. In recent years, it has been implicated in several cognitive disorders, viz. Angelman syndrome, Alzheimer’s disease, fragile-X syndrome, etc. It undergoes quick transcription and highly regulated translation after exposure to a novel environment. Previous studies h...
Source: Neuroscience - Category: Neuroscience Source Type: research
Authors: Kumari D, Usdin K PMID: 32067539 [PubMed - as supplied by publisher]
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research
(Michigan Medicine - University of Michigan) Researchers found that repeats in the gene that causes Fragile X Syndrome normally regulate how and when proteins are made in neurons.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Publication date: Available online 14 February 2020Source: Journal of Clinical NeuroscienceAuthor(s): Chao-Wen Luo, Xiao-Yan Deng, Jin-Ling Cheng, Dan-Xian Xiao, Chu-Yu Zhang, Jia-Xin Feng, Sheng-Qiang Chen, Nan HuAbstractFragile X syndrome (FXS) is a common mental retardation syndrome. Anxiety and abnormal social behaviors are prominent features of FXS in humans. To better understand the effects of hyperbaric oxygen therapy (HBOT) on these behaviors, we analyzed anxiety-related and social behaviors in Fmr1 knockout mice treated by HBOT. In the open field test, HBOT group mice preferred the periphery to central a...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
American Journal on Intellectual and Developmental Disabilities,Volume 125, Issue 2, Page 103-108, March 2020.
Source: American Journal on Intellectual and Developmental Disabilities - Category: Disability Authors: Source Type: research
Publication date: Available online 12 February 2020Source: NeuroscienceAuthor(s): Merrick S. Fallah, James H. EubanksAbstractGenetic neurodevelopmental disorders that often include epilepsy as part of their phenotype are a heterogeneous and clinically challenging spectrum of disorders in children. Although seizures often contribute significantly to morbidity in these affected populations, the mechanisms of epileptogenesis in these conditions remain poorly understood. Different model systems have been developed to aid unraveling these mechanisms, which include a number of specific mutant mouse lines which genocopy specific ...
Source: Neuroscience - Category: Neuroscience Source Type: research
In this study, CRISPR/Cas9 technology was used to generate two zebrafish fmr1 mutant lines. High-throughput behavior analysis, qRT-PCR, and alcian blue staining experiments were employed to investigate fmr1 function. The fmr1 mutant line showed abnormal behavior, learning memory defects, and impaired craniofacial cartilage development. These features are similar to the human FXS phenotype, indicating that the fmr1 mutant generated in this study can be used as a new model for studying the molecular pathology of FXS. It also provides a suitable model for high-throughput screening of small molecule drugs for FXS therapeutics....
Source: Behavior Genetics - Category: Genetics & Stem Cells Authors: Tags: Behav Genet Source Type: research
This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling revealed early increases in daily living skills, with decreases at older ages. Behavior problems became less severe over time, with some increases at older ages. Individuals gained weight and had increasing health problems over time. Fewer ASD sympto...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Abstract Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability with symptoms that include increased anxiety and social and sensory processing deficits. Recent EEG studies in humans with FXS have identified neural oscillation deficits that include increased resting state gamma power, increased amplitude of auditory evoked potentials, and reduced inter-trial phase coherence of sound-evoked gamma oscillations. Identification of comparable EEG biomarkers in mouse models of FXS could facilitate the pre-clinical to clinical therapeutic pipeline. However, while human EEG studies have involv...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
TUESDAY, Feb. 4, 2020 -- In children with fragile X syndrome (FXS), Down syndrome (DS), and Williams syndrome (WS), disrupted sleep may adversely affect language development, according to a study published in the February issue of Research in...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
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