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Genetics and exercise: an introduction
Published in Adam P. Sharples, James P. Morton, Henning Wackerhage, Molecular Exercise Physiology, 2022
Claude Bouchard, Henning Wackerhage
According to the World Health Organization, genetics is the study of heredity. Genetics is concerned with the study of genes, genetic variation and heredity in organisms. We begin this chapter by discussing the field of genetic epidemiology where researchers use twins, nuclear families and other relatives by descent or by adoption to evaluate whether sport- and exercise-related traits such as body height, VO2max, strength, muscle mass or trainability are inherited. Because biological inheritance is encoded in the cellular deoxyribonucleic acid (DNA), we then describe the DNA molecule, the central dogma of molecular biology (DNA to RNA to protein) and the human genome. Next, we explain the link between inheritance and the human genome with an emphasis on variation in the DNA sequence. Finally, we discuss practical issues such as genetic testing, gene therapy and gene doping.
Differential Genetic Diagnosis between Leiomyoma and Leiomyosarcoma
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Alba Machado-Lopez, Aymara Mas
Over recent decades, classical diagnosis of tumor pathology, based on morphological classification, grading, and staging, has been replaced by a growing demand for molecular tumor subclassification, information on prognosis, and response to therapeutic targets (60). To address these demands, an extended spectrum of methods is required. These encompass molecular biology techniques, such as polymerase chain reaction (PCR), fluorescence in situ hybridization, gene array assays, and DNA/RNA sequencing.
Quantitative Evaluation of Minimal Injuries
Published in Joan Gil, Models of Lung Disease, 2020
Cell functional and structural changes are ultimately regulated by changes in gene expression. In this sense, modification in the cell’s gene expression is one of the earliest indicators of cell injury and an important component of the mechanism of cell response. New techniques in molecular biology have become available, and it is now possible to study the molecular basis for regulation of gene expressions of specific cellular enzymes. Although a body of literature already exists on the molecular biology of lung cancer, little work has appeared on other lung injuries or diseases. Elevated levels of lung mRNA for procollagen, elastin, and fibronectin have been found following acute lung injury induced by bleomycin (Kelley et al., 1985; Raghow et al., 1985). Mueller et al. (1987) recently demonstrated paraquat-induced mRNA staining on paraffin sections by in situ hybridization. In situ hybridization can be readily applied to the study of regulation of gene expression in localized injury.
Analysis of core mutation and TET2/ASXL1 mutations DNA methylation profile in myelodysplastic syndrome
Published in Hematology, 2023
Yue Feng, Haiping Liang, Xingchun Luo, Yu Zhu, Bei Liu, Meining Han
Myelodysplastic syndromes (MDS) is a group of heterogeneous myeloid clonal diseases originating from stem cells [1], with an estimated incidence ranging from 5–13 cases per 100,000 individuals per year [2]. The natural disease course and outcomes of patients with MDS vary substantially. Patients with MDS exhibit widespread aberrant DNA methylation in the late stage of the disease [3]. In terms of the diagnosis and prognosis of MDS, clinicians frequently rely on the morphological, immunological and cytogenetic evaluations of peripheral blood and bone marrow and IPSS-R. In recent years, with advances in molecular biology, accumulating evidence has revealed that gene mutations play vital roles in the diagnosis, prognosis, and treatment of patients. Therefore, molecular-level studies will contribute to the accurate diagnosis and prognostication of MDS.
Analysis of clinical characteristics and prognostic factors associated with EBV-associated HLH in children
Published in Hematology, 2022
Kun-yin Qiu, Shu-yi Guo, Yang-hui Zeng, Xiong-yu Liao, Shao-fen Lin, Jian-pei Fang, Dun-hua Zhou
The diagnosis of HLH is currently based on the diagnostic criteria of HLH-2004 [3]. The diagnosis HLH can be established if one of either 1 or 2 below is fulfilled, of which molecular biological evidence is an important basis for the diagnosis of primary hemophagocytic lymphohistiocytosis (pHLH). Molecular biology meets the diagnostic criteria, i.e. detection of gene mutation associated with HLH included PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4/XIAP, ITK deficiency, CD27 deficiency, MAGT1, GS-2, CHS-1, HPS-II, CHS1/LYST, Rab27a and AP3β 1.Diagnostic criteria for HLH fulfilled (five out of the eight criteria below)
Polygenic and Network-based studies in risk identification and demystification of cancer
Published in Expert Review of Molecular Diagnostics, 2022
Christopher El Hadi, Georges Ayoub, Yara Bachir, Michèle Haykal, Nadine Jalkh, Hampig Raphael Kourie
Network analysis in cancer genomics has begun to be used in the last five years, with strong growth in the last two years [6]. The field of ‘functional genomics’ is concerned with the study of this complexity, and it is still in its infancy [7]. It integrates studies of molecular and cellular biology and deals with the structure, function, and regulation of groups of genes rather than individual genes, thus moving beyond classical molecular biology. Moreover, these molecular networks show remarkable conservation across species, both in their architecture and in their internal properties [8], suggesting the existence of a fundamental law governing them. Therefore, using gene networks as a unit of study instead of single genes could help understand, treat, and prevent all complex diseases, which is the ultimate goal of modern medicine.