Molecular analysis of patients suspected of Fragile X Syndrome

Amancio, A.P.; Melo, C.A. de O.; Vieira, Albertina; Minasi, Lysa Bernardes; Silva, D. de M. e; Silva, C.C. da; Cruz, Aparecido Divino da

doi:10.4238/2015.november.18.30

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…A FRAXA mutation is demarcated as a ‘premutation’ when the repeats increase beyond the upper-normal limits to a size of about 200 triplets, characteristic of carrier females and normal transmitting males in whom, despite the structural modification, the gene is expressed and the protein is functional [ 42 ]. The altered allele transmitted by a premutated mother to her offspring scarcely ever shows small decreases of the repeats; more commonly, with a risk that is higher for larger premutations, it undertakes a process of expansion that can reach a size increase of more than 2000 repeats and is referred to as the ‘full mutation’ [ 43 ].…”

Section: Fragile X Syndromementioning

confidence: 99%

Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine

et al. 2017

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The current advent of molecular technologies together with a multidisciplinary interplay of several fields led to the development of genomics, which concentrates on the detection of pathogenic events at the genome level. The structural and functional genomics approaches have now pinpointed the technical challenge in the exploration of disease-related genes and the recognition of their structural alterations or elucidation of gene function. Various promising technologies and diagnostic applications of structural genomics are currently preparing a large database of disease-genes, genetic alterations etc., by mutation scanning and DNA chip technology. Further the functional genomics also exploring the expression genetics (hybridization-, PCR-and sequence-based technologies), twohybrid technology, next generation sequencing with Bioinformatics and computational biology. Advances in microarray ''chip'' technology as microarrays have allowed the parallel analysis of gene expression patterns of thousands of genes simultaneously. Sequence information collected from the genomes of many individuals is leading to the rapid discovery of single nucleotide polymorphisms or SNPs. Further advances of genetic engineering have also revolutionized immunoassay biotechnology via engineering of antibody-encoding genes and the phage display technology. The Biotechnology plays an important role in the development of diagnostic assays in response to an outbreak or critical disease response need. However, there is also need to pinpoint various obstacles and issues related to the commercialization and widespread dispersal of genetic knowledge derived from the exploitation of the biotechnology industry and the development and marketing of diagnostic services. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry. Thus this field is revolutionizing current era and further it may open new vistas in the field of disease management.

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Section: Fragile X Syndromementioning

confidence: 99%

Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine

et al. 2017

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“…For example, methylation-specific quantitative melt analysis (MS-QMA), respectively, identified methylation mosaicism in an additional 15% and 11% of patients in the Chilean and Australian reports, suggesting the presence of a cryptic FM [ 5 , 6 ]. Other methods include a variety of polymerase chain reaction (PCR) techniques, such as high polymorphism markers for preimplantation genetic diagnosis (PGD) of FXS [ 7 ] and two PCR analyses (PCR screening and PCR premutation) [ 8 ]. However, it is difficult to draw a solid criterion due to different inclusive criteria, diagnostic methods, and sample sizes within each study.…”

Section: Introductionmentioning

confidence: 99%

Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome

Gao

Yang

et al. 2018

Neural Plasticity

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Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP). Patients present neuronal alterations that lead to severe intellectual disability and altered sleep rhythms. However, the neural circuit mechanisms underlying FXS remain unclear. Previous studies have suggested that metabolic glutamate and gamma-aminobutyric acid (GABA) receptors/circuits are two counter-balanced factors involved in FXS pathophysiology. More and more studies demonstrated that attenuated GABAergic circuits in the absence of FMRP are critical for abnormal progression of FXS. Here, we reviewed the changes of GABA neural circuits that were attributed to intellectual-deficient FXS, from several aspects including deregulated GABA metabolism, decreased expressions of GABA receptor subunits, and impaired GABAergic neural circuits. Furthermore, the activities of GABA neural circuits are modulated by circadian rhythm of FMRP metabolism and reviewed the abnormal condition of FXS mice or patients.

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Spectral Analysis of Codons in the DNA Sequence of Fragile X Syndrome

Bharathi¹,

Balamanikandan²

2019

J Med Syst

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Molecular analysis of patients suspected of Fragile X Syndrome

Cited by 4 publications

References 15 publications

Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine

Diseases and Molecular Diagnostics: A Step Closer to Precision Medicine

Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome

Spectral Analysis of Codons in the DNA Sequence of Fragile X Syndrome

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