Quantitative traits and heritability (lecture 3 campbell)

as females deactivate (render transcriptionally silent) one of their X chromosomes by highly condensing it, males and females have an equal dosage of … represented on a single active X chromosome (3 words)

X linked genes

despite females deactivating one of their X chromosomes, both are … to gametes (in the sense that both can be inherited)

transmissible

is cystic fibrosis autosomal dominant or recessive?

recessive

3 common symptoms of cystic fibrosis

1. chronic bacterial infections

2. inflammation of the lungs

3. high electrolyte levels in sweat

which gene is mutated in individuals with CF

CFTR

name the protein which is affected in CF

CF transmembrane conductance regulator

the CFTR protein ensures … by allowing chloride ions to move out of the cells

balance between salt and water in secreted fluids like mucus and sweat

the CFTR protein is found where? (cell type + 3 organs)

in epithelial cells of lungs, pancreas and intestines

on which chromosome and arm is the CFTR gene located?

7q

genetic phenomenon where mutations in different genes (loci) can cause the same or a similar disease or condition

locus heterogeneity

what phenomenon explains how two parents who are both affected with the same recessive disorder still produce multiple unaffected children

locus heterogeneity

what type of genetic mutation is a mutation caused by the insertion or deletion of one or more nucleotide bases in a DNA sequence, where the number of bases is not a multiple of three

frameshift mutation

what type of genetic mutation is a mutation caused by insertions or deletions of nucleotides in a DNA sequence that are in multiples of three

inframe mutation

generally which is more clinically severe - a frameshift mutation or a inframe mutation?

frameshift

type of mutation which changes a single amino acid in a protein

missense

type of mutation which creates a premature stop codon

nonsense

complex genetic traits are influences by…

alleles at two or more loci

the estimate of what represents the fraction of the total variation in a trait in a given population is due to genetic differences

heritability

the BRCA1 and BRCA2 proteins help repair…

damaged DNA

a human tumour supressant gene found on chromosme 13

BRCA2

on which chromosome is BRCA2 found?

13

in which two tissues are the protein products of BRCA1 and BRCA2 mostly found in

breast and ovary tissues

which chromosome is BRCA1 found on

17

deleterious mutations in the BRCA1 gene lead to … and … proteins

frameshifted and truncated

which growth factor receptor is overexpressed in some breast cancers

human epidermal growth factor receptor 2 

what does HER2 stand for

human epidermal growth factor receptor 2

overexpression of HER2 on the surface of cancer cells stimulates them to…

proliferate

humanized monclonal antibody designed to bind to and inactivate the HER2 receptor, inhibiting cell proliferation

herceptin