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Clinical genetics
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
The genetic changes that cause human disease can vary in size from a whole additional or missing chromosome to a change of a single base in a gene sequence. The techniques required to detect such changes depend on the size of change being sought (Figure 5.9).
Disease Prediction and Drug Development
Published in Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam, Introduction to Computational Health Informatics, 2019
Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam
One of the major roles of bioinformatics is to derive the gene-sequence and its function, gene-groups and their roles in metabolic pathways. Gene-sequence is identified using multiple machine learning techniques such as HMM, ANN and generalized probabilistic models. The gene-groups are derived using pair-wise genome comparison that is modeled as a bipartite graph matching. Gene-function is derived by using BLAST-based search with a high level of match under the assumption that sequence-similarity maps to functional similarity.
Candidate Genes, Gene × Environment Interactions, and Epigenetics
Published in Gail S. Anderson, Biological Influences on Criminal Behavior, 2019
When reproduction occurs—that is, the reproduction of a new individual—most of the epigenome is reset, but some of the chemical marks may remain on the DNA and histones of the gametes (eggs and sperm) to be inherited by the next generation.52 This can be considered a non-genetic form of inheritance, which results in passing traits from parents to children, without involving the gene sequence.48
Evaluation of pharmacological efficacy and safety of hydroxyurea in sickle cell disease: Study of a pediatric cohort from Chhattisgarh, India
Published in Pediatric Hematology and Oncology, 2023
Harsha Lad, Shoma Naskar, S. K. D. B. Punyasri Pasupuleti, Rakesh Nahrel, Pradeep Sihare, Giriraj R. Chandak, Pradeep K. Patra
Genomic DNA was isolated from all the blood samples using blood isolation kits (Qiagen, Germany) as per manufacturer’s protocol. The extracted DNA was checked for quality and quantity using agarose gel electrophoresis and nanodrop spectrophotometer respectively. The beta globin gene was amplified in three fragments using overlapping primer sets (Supplementary Table S1). Cycling conditions for PCR amplification are as follows: after an initial denaturation cycle (94 °C for 1 min), 35 cycles of (denaturation at 94 °C for 30 secs, annealing at 58 °C, 51 °C and 64 °C for the first, second and third fragments respectively for 45 secs and extension at 72 °C for 90 secs) and final extension at 72 °C for 10 mins. PCR amplified products, purified using ExoSAP kit were subjected to Sanger sequencing and sequences were analyzed using the CodonCode Aligner tool on reference HBB gene sequence (NC_000011.10:c5227071-5225464, Homo sapiens, chromosome 11, GRCh38.p14 Primary Assembly). After analyzing every sample for its sickle mutation status (Cd 6 A > G) in the beta globin gene, above mentioned fragments were amplified in numerical order and individual genotypes finalised.15,16
Augmentative and alternative communication for Aboriginal Australians: Developing core vocabulary for Yolŋu speakers
Published in Augmentative and Alternative Communication, 2022
Rebecca Amery, Julie Gungungbuy Wunungmurra, Parimala Raghavendra, Gurimaŋu Bukuḻatjpi, Rachel Dikul Baker, Farrah Gumbula, Ruth Barker, Deborah Theodoros, Howard Amery, Libby Massey, Anne Lowell
Adults living with Machado-Joseph disease (MJD), otherwise known as spinocerebellar ataxia type 3 (SCA3), may greatly benefit from augmentative and alternative communication (AAC) systems. MJD is the most common type of spinocerebellar ataxia in the world (Martins et al., 2012). It is a neurodegenerative disease that results in dysarthria, and later anarthria, a complete loss of speech. Impaired vision, fine and gross motor skills, incontinence, and sleep are other symptoms associated with MJD (Saute & Jardim, 2015). Despite the gradual degradation of these functions, cognition remains unaffected. A phenomenon known as anticipation, associated with MJD and other triplet diseases, results in younger generations commonly inheriting a longer disordered gene sequence and earlier onset than their parents (Bettencourt & Lima, 2011). People can live for 20 years or more from the first onset of symptoms with access to appropriate medical care (Saute & Jardim, 2015). These factors suggest that AAC can and should be developed before the onset of debilitating symptoms.
Gene and cell therapy and nanomedicine for the treatment of multiple sclerosis: bibliometric analysis and systematic review of clinical outcomes
Published in Expert Review of Neurotherapeutics, 2021
Javier Caballero-Villarraso, Jamil Sawas, Begoña M. Escribano, Francisco A. Martín-Hersog, Andrea Valverde-Martínez, Isaac Túnez
Gene therapy could be defined as the set of techniques that allow the conveyance of DNA or RNA sequences inside target cells, in order to modulate the expression of certain genes that are altered, thus reversing the biological disorder previously induced [13,14]. Depending on the type of target cell, there are two modalities of gene therapy: germ cell gene therapy and somatic gene therapy. Furthermore, depending on the applied strategy, it can also be classified into in vivo and ex vivo gene therapy. To achieve a certain biological effect in gene therapy, it is necessary to efficiently transfer (introduce) the gene sequence of interest into the target cell and subsequently obtain its expression pattern in the host cell. Physico-chemical gene transfer methods include: microinjection, calcium phosphate precipitation, electroporation, microprojectile bombardment, direct injection of ‘naked’ DNA, DNA-protein conjugates, DNA-adenovirus conjugates, and liposomes [13–15].