Genetic diseases Flashcards
In which type of glycogen storage disease does glycogen accumulate in the lysosomes of cells?
Type II
Which type of genetic disorder has the lowest penetrance?
complex multigenic disorders
which type of genetic disorders are also called “mendelian disorders”
single gene mutations
which type of genetic disorder is due to structural or numerical alterations in autosomes or sex chromosomes?
chromosomal disorders
What is the difference between a conservative or a nonconservative missense mutation?
both involve point mutations, conservative doesn’t change the function of the protein, non-conservative does
a point mutation which changes an amino acid sequence to a stop codon is called what type of mutation?
nonsense mutation
a mutation that changes the reading frame of the amino acid sequence is called what?
A frameshift mutation
what is the pattern of inheritence for vWB disease, polycystic kidney disease, osteogenesis imperfecta, and familial hypercholesterolemia?
Autosomal dominant
what is the pattern of inheritence for lysosomal storage diseases and glycogen storage diseases?
autosomal recessive
almost all inborn errors of metabolism follow which pattern of inheritence?
autosomal recessive
x linked disorders are more common in which sex?
males
who are carriers of x-linked disorders - sons or daughters of affected men?
daughters
which are affected in autosomal dominant disorders - enzymes or receptors and structural proteins?
receptors and structural proteins
which are affected in autosomal recessive disoders - enzymes or receptors and structural proteins?
enzymes
Diabetes insipidus, duchenne muscular dystrophy, G6P deficiency, agammaglobulinemia all follow which pattern of inheritence?
x-linked
What part of hepatocyte LDL clearance is mediated by PCSK9?
Regulates (prevents) the recycling of the LDL receptor
NPC1 and NPC2 are involved in which part of LDL metabolism by the liver?
help free cholesterol leave the lysosome
what is primary accumulation as it relates to lysosomal storage diseases?
when an enzyme is deficient and the substrate builds up within the lysosome
What is secondary accumulation as it relates to lysosomal storage diseases?
defective autophagy leads to build up of abberrant micocondria and toxic proteins that cause free radical generation and cell death via intrinsic apoptosis
complete or partial monosomy of the x chromosome results in which syndrome occasionally seen in horses?
Turner syndrome
