IMED2004 Lecture Notes - Lecture 1: Germ Cell, Gamete, Sickle-Cell Disease
25 Mar 2020
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Document Summary
Genotype= the combination of a gene carried by an organism (e. g. aa or cc) Phenotype= the expression of a gene carried by an organism. Characteristic- attribute or feature possessed by an organism. Cytogenetics: structure, properties & behaviour of chromosomes, karyotype, used to determine chromosome number and structure, can detect copy number aberrations and large structural rearrangement (e. g. in cancer cells) Molecular genetics: studies structure & function of genes at a molecular level, uses molecular biology & genetics. Inter-relationship between dna, rna & synthesis of polypeptides: tests typically dna or rna- based. Line between cytogenetics and molecular genetics is blurring: molecular methods can detect cytogenetics abnormalities, e. g. microarray for submicroscopic deletions & duplications. Genetic- complex- environmental diseases: single gene/ mendelian disorders, down syndrome, cystic fibrosis, sickle cell disease, complex genetic diseases, diabetes type 2, alzheimer"s disease, cardiovascular disease, obesity, environmental diseases, allergies and asthma, mesothelioma.
