inherited/congenital 3

Question 1

most males are affected = what type of disease

Answer 1

x- linked

Question 2

50:50 btw males and females affected =?

Answer 2

autosomal

Question 3

snp

Answer 3

single nucleotide polymorphism : sequence differs within population

Question 4

str

Answer 4

short tandem repeats. dinucleotides around the genome

Question 5

cnv

Answer 5

copy number cariations: dna occurring in cell w abnormal number of cpoies of one or more sections of DNA

Question 6

cystic fibrosis

Answer 6

1-codon deletion.
splice site mutations may decrease synthesis of normal protein.
5t variant of 5t/7t/9t polymorphism. - 5t less efficient at removing intron 8.
protein is difficult to fold (in normal and diseased states) need chaperones, golgi.
cl- transport impaired = impaired Na+ and H20 transport. viscous secretions in airways, pancreas, vas deferens = impaired organ fuunction.

Question 7

genotype-phenotype correlation of CF

Answer 7

mild - mutation on one alel and intron 85t on another allele. = increased sweat cl-, male infertility, mild lung disease

moderate: increased sweat cli-, lung disease, normal pancreatic fxn
severe: insreased sweat cl-, lung disease, pancreatic insufficiencey

Question 8

CF phenotype modifiers.

Answer 8

genes cause lack or abnormal function of cftr
-infection
-liver disease
-tobacco
pathogens

Question 9

triple nucleotide repeats

Answer 9

set of genetic disorder caused by 3- nucleotide repeat expansion. - exceeds normal, stable threshold.

Question 10

huntingtons

Answer 10

trinucleotide repeat.
CAG repeat in exon 1 codes for Q. = toxic gain of fxn
incorrect folding =mutant molecules tangle together.
more mutations = protein instability.
neurological disease - chorea and dementia. neuronal cell loss in specific parts of brain. anticipation effect - increase eseverity over generations.

Question 11

migration defects - hirschprung disease - incomplete migration & colonization of ganglion cells.

Answer 11

polygenic disease

ret sox edn3

Question 12

4 categories of cardiomyopathy

Answer 12

dilated (heterogenous, calcium-handling protein)
hypertrophic (myH7 and MYBPC3 - disease of sarcomere)
restrictive (genes involving sarcomere, z-disk)
arrhythmogenic (cardiac desmosome)