IMED1002 Lecture Notes - Lecture 12: Hemoglobin, Xyy Syndrome, Spinocerebellar Ataxia
15 Aug 2018
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Lecture #31: chromosome changes number: 21st of may : Define the different types of abnormalities that result in gain or loss of chromosomes. Understand and define the types of aneuploids and have a basic understanding of the mechanism by which they rise. Know the monosomies and trisomies that occur in humans. Be able to describe the phenomenon of gene balance and how gene dosage affects phenotype. Gene: fundamental physical and functional unit of hereditary, a segment of dna. Allele: one of the different forms of a gene (at a single locus- the location of a gene on a chromosome, plural= loci) Genotype: composition of an individual gene or set of genes. Phenotype: detectable manifestations of a specific genotype (trait) Autosome- 22 pairs do not determine gender. 3 basic categories: aneuploidy, aberrant euploidy (polyploidy, chromosome rearrangements. Aneuploid= number of chromosomes is altered (one or more individual chromosomes are added or deleted)
