Medical Genetics Flashcards
what is a chromosome
long double stranded DNA molecule coated with proteins
what are the effects of genetic variants
complete inactivation of function
decreased function
no significant effect
increased or changed function
describe what can lead to complete inactivation of function
deletions
premature translation stop
describe what can lead to decreased function
amino acid substitutions in key regions, regulatory variants
describe what can lead to no significant effect
non coding DNA, no change in amino acid, alters less important region of protein
what can lead to an increased or changed function
amino acid substitutions in key regions, regulatory variants or duplications
describe the genetics of cystic fibrosis
affects males and females
horizontal pattern
autosomal recessive inheritance
affects children and young adults
can affect digestion and respiration
how many pairs of chromosomes normally
23
can chromosomes be seen with a normal microscope
yes
what is a pedigree
a family tree
what is the proband
this is who brings the family to attention, like the person in the clinic
what does a double horizontal line mean
the people are dating and related
what is indicated if someone develops cancer at a young age
that it is genetic
what does horizontal pattern of inheritance mean
this is when people in a single generation are affected. vertical is more than one generation
what is a vertical pattern of inheritance
this is when multiple generations are affected
