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
Obstruction
blockage of tube or lack of function
Mechanical obstruction
something physical or structural that blocks the tube
Functional obstruction
tube is not in function. Less common and harder to understand. An example is the paralysis of the gut.
What type of mutation is the most serious?
frameshift mutation
Klinefelter syndrome
47 chromosomes (XXY)
what is an example of an autosomal recessive disorder?
cystic fibrosis
What is an example of a autosomal dominant disorder?
huntingtons disease
X linked gene disorders
males inherit these types of diseases from their mother. Females become carriers
Example of X linked disorders
duchenne muscular dystrophy and hemophilia
