Topic 3 – Genetics-Variation and the human genome project Flashcards
what are 2 causes of variation within a specie?
genetics
environment
what is genetic variation?
variations in genotype of organisms of same species due to presence of different alleles
creates difference in phenotypes
what causes genetic variation in species?
spontaneous mutations
sexual reproduction
what is a mutation?
random change to bases sequences in DNA which results in genetic variants
state 3 type of gene mutation
insertion
deletion
substitution
how may a gene mutation affect an organism phenotype?
natural mutation does not change sequence of amino acids. protein structure and function some. no effect on phenotype
mutation may cause minor change in organism phenotype.
mutation may completely change sequence of amino acids may result in non functional proteins, severe changes to phenotype.
what is environmental variation?
variation in phenotypes that are acquired during lifespan of organism
due to environmental factos, e.g. diet lifestyle climate exposure to light etc.
what is human genome project?
scientist research project involved thousands of scientsits across globe, which mapped entire human genome
now aim to identify each gene in human geonome
How can the results of the Human Genome Project be applied to medicine?

enabled scientists to understand how lifestyle factors interact with genes, identifying predisposition to disease, and possible preventions
disease causing alleles identified more rapidly, and appropriate treatments prescribed.
can predict indvidual response to certain drugs, can be developed which tailored to specific allele
What are drawbacks associated with the discoveries of the Human Genome Project?
Knowledge of predisposition to a disease can be stressful
societal pressure influencing the decision to have children
Discrimination by employers, insurance firms etc.
