Genetic Influences on Disease Flashcards
Genotype
genetic constitution of an individual
Phenotype
appearance of an individual (physical, biochemical, physiological) which results from the interaction of the environment and the genotype
Polymorphism
Frequent hereditary variations at a locus
Hemizygous
only one allele refers to a locus on X chromosome in a male
Recognising rare diseases using G.E.N.E.S.
G - group of congential anomalies
E - extreme presentation of common conditions (eg. recurrent miscarriages)
N - Neurodevelopmental delay or early onset neurodegeneration
E - extreme pathology
S - surprising lab values (eg. v high cholesterol)
Autosomal Dominant Inheritance vs Autosomal recessive inheritance
Disease which is manifest in the heterozygous state rather than homozygous state
Mitochondrial Inheritance
Only found in eggs as sperm contain such a small volume of mitochondrial DNA
Trisomy
Monosomy
Polyploidy
extra chromosome (21 - Down syndrome)
Types of structural chromosome abnormalities
translocation, inversion, duplication, deletions
Microarrays
technology which improves resolution for detection of cytogenetic abnormalities
Constitutional abnormalities
Occur at gametogenesis, affects all cells of the body, heritable
3 main causes of disease
Genetic, environmental and multifactorial (most common, combo of genetic and environmental)
Important qualities of water
universal solvent, polarity, hydrogen bonding (individual bonds are weak, but many of them makes them strong).
primary prevention
preventing the onset of disease
penetrance
the percentage of individuals with a specific genotype showing the expected phenotype
