Class 1 Flashcards
Predisposing factors
increase the probability that a disease will occur. Not the cause of disease
Precipitating factors
condition or event that does cause a pathogenic event or disorder
aneuploidy
when a cell does not contain a mutilple of 23 chromosomes
mutation
any inherited alteration of genetic material
frameshift mutation
insertion or deletion of one or more base pairs. Can greatly alter the amino acid sequence!!!!
Base pair substitution
one base pair is replaced by another. Not as severe as frameshift.
Nondisjunction
error where 2 homologus chromosomes fail to seperate. Produces some gametes that have 2 copies of chromosome (results in trisomy) or no copies (monosomy)
Nondisjunction creates an?
aneuploidy
Down syndrome
trisomy of chromosome 21
Turner syndrome
presence of a single X chromosome
Turner syndrome is only present in?
females
short stature, widely spaced nipples, webbed fingers and toes
turners syndrome
Autosomal Recessive disorders mean that?
both parents must carry the gene
Autosomal dominant inheritence requires?
only one parent to carry the gene
multifactorial disorders
diseases caused by a number of genes acting together and influenced by other factors