Abstract
Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings. It comprises studying causes and mechanisms of pathogenesis of genetic disorders, clinical characterization of different types of these disorders and their modes of inheritance, study of diagnostic techniques used in their diagnosis and delineation of effective prophylactic and therapeutic measures resorted to in managing patients and carriers of these diseases. The wide spectrum of medical genetics includes six main fields: basic, clinical, diagnostic, prophylactic, therapeutic and applied genetics. The scopes of most of these fields are self-explanatory with few exceptions. Pathogenetics, a branch of basic genetics, implies the study of mutagens, mutations, pathogenetic mechanisms responsible for development of genetic diseases and anti-mutation mechanisms that protect the genome from the pathological consequences of these mechanisms. Formal genetics, another branch of basic genetics, is concerned with deducing and figuring out relevant genetic data from constructed figures that contain specific genetic information. These informative figures include, for instance, constructed family pedigrees, linkage maps and chromosomal maps. Applied genetics denotes use of knowledge of other fields of medical genetics in many significant applications like genetic counseling, fetal therapy and forensic genetics. Treatment of genetic disorders and prevention of their complications represent the main targets of therapeutic and prophylactic genetics, respectively. The importance of medical genetics resides in hopes of its ability to offer alleviating measures and curative therapies for disprevileged patients with genetic diseases and, more importantly, to succeed in achieving radical preventive approaches of these diseases. This article is intended to offer a simple and concise overview of medical genetics including the various aspects of its different fields.
Highlights
Medical genetics is a branch of human genetics confined to studying structure and function of the genetic material in health and disease states of human beings
As the name implies, is a branch of human genetics confined to, and concerned with, studying structure and function of the genetic material in relation to health and disease states of human beings. It comprises the study of causes and mechanisms of pathogenesis of genetic disorders, clinical characterization of different types of these disorders and their modes of inheritance, study of diagnostic techniques used in their diagnosis and delineation of effective prophylactic and therapeutic measures resorted to in managing patients and carriers of these diseases
The proteins which are constituents of and mediate these metabolic networks are synthesized in living cells under strict regulation of the genes contained within the cells
Summary
These levels comprise a wide range beginning with a whole nucleotide or just part of it (base, sugar, phosphate), DNA, RNA, genes, chromosomes, mitochondrial DNA (mtDNA), up to the whole genome This cause and effect relationship between mutagens, mutations and genetic disorders spans a very wide spectrum of different mechanisms that follow a peculiar cascade of events beginning with mutation-induced pathogenetic alterations of the genetic material, leading to disturbed gene function and deficient or improper synthesis of gene products, whether these products are proteins or small regulatory miRNA biomolecules. Since synthesis of proper gene products, necessary for mediating cellular activities, depends primarily on integrity of the genetic information embodied within the specific base sequence of the gene, changes or mutation of the exact number or the peculiar arrangement of these bases is expected to result in deficient or disturbed gene function This disturbance might express itself as production of structurally defective gene product, deficient synthesis of enough product or disturbance in regulatory mechanisms responsible for mediating, monitoring, harmonizing and controlling gene functions. Milder alterations can cause deranged cellular function(s) and limited or progressive failure and loss of cellular activities, e.g. progressive organ failure syndrome
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