Mutations and Genetic Disorders Flashcards
what is a mutation
a change in DNA which can chage the way an organism looks, its physiology and behaviour. it is very important to genetic variation
what are the possible sources of mutation
can be inherited from parents\
can be aquired - enviro damage, mistake in DNA copying which is a spontaneous mutation
can occur spontaneoulsy over long periods of time
what can increase a mutation rate
exposure to high temperature, radiation or cigarette smoke for example
why is mutation important to variation
a single mutation can have a large effect, in many cases, evolutionary change is based on teh accumulation of many mutations
what is a genetic disorder
caused by an altered gene or set of genes, alters instruction for making proteins, you can inherit a gene mutation from one or both parents
what is a single gene disorder
mutations that affect one gene e,g, sickle cell anemia
what is a complex disorder
mutations in tow or more genes, influenced by lifestyles and invornment e.g. colon cancer
what is a chromosomal disorder
chromosomes or pairs of chromosomes are missing or changed e.g. down sydronome (extra chromosome 21)
what is a karyotype
a test to examine chromosomes in a sample of cells which can help indentify genetic problem as the case of disorders or disease, can count number of chro and look for structural chnages