Quiz 4 review Flashcards
molecular disorders are
primary disease causing event is altered either inherited or acquired that affects genes
hemoglobinopathy is
the basic genetic and biochemical mechanisms
mutations that occurs in protein coding genes will
cause disease that will affect 1 of 4 different protein functions
what are the 4 types of mutations in protein function
loss of function, gain of function, novel property mutations (new a.a.), and mutations with heterochronic or ectopic gene expression
what is the most common mutation of protein function
loss of function
mutations that are involved in gene regulation are
likely located conserved or functional important
mutations involved in RNA stability are
likely associated at 5’ or 3’ UTR
what is is missense mutation
change in amino acid
what is nonsense mutation
amino acid changed to STOP amino acid
what is frameshift mutation
insertion of amino acid
what is silent mutation
mutation where same amino acid is expressed
explain loss of function mutations
deletions that cause reduction in gene dosage
novel property mutations are
infrequent amino acid sequence
mutations associated with heterochronic or ectopic gene expression often result in
inappropriate expression and increase cell proliferation
8 stages of mutations will result in
disruption of normal productions of a protein
allelic heterogeneity are
multiple alleles at a single locus
locus heterogeneity are
mutations in > 2 genes
heme is a
iron containing pigment that combines with oxygen
predominant hemoglobin throughout
fetal life ~ 70% of total hemoglobin at birth
~20 kb deletion upstream of LCR of beta globin complex results in
disease since LCR is required for gene expression
Hb Kempsey results is a result of what mutation
Asp99Asn
what affects does the mutation occur in Hb Kempsey
substation keeps the Hb in its high oxygen affinity structure -> less oxygen to tissues -> polycythemia
dysmorphology is
study of congenital birth defects that alter shape or form of one or more body of newborn child
malformations occur from
intrinsic abnormalities in one or more genetic programs
deformations occur from
extrinsic factors impact physically on fetus development
disruptions occur from
result form destruction of irreplaceable normal fetal tissue
unexpected environment agents can be
teratogens -> interfere with molecules in the pathways
developmental genetics is the study of
mechanisms and pathways responsible for normal human development in utero
what term is used to describe a single causative agent causes multiple abnormalities in parallel
syndrome
what are the fundamental mechanisms operating in development
- gene regulation by transcription factors
- cell-cell signaling by direct contact and by morphogens
- induction of cell shape and polarity
- cell movement
- programmed cell death
cells must communicate ____
though cell signaling mechanism
cell-cell communication systems composed of a ____ and molecule called ____
cell surface receptor; ligand
describe induction of cell shape and polarity
cells must organize themselves with respect to their position and polarity in microenvironment
definition of apoptosis
major form of programmed cell death which destroy cell that represent threat to out body
fetal cells and epithelial cells from people with polycystic kidney disease express
heterodimer of EGFR and erb-b2
neoplasia is characterized by
uncontrolled cellular proliferation leading to mass or tumor
what is driver in gene mutations
causative development or progression
what is passenger in gene mutation
random, not recurrent
two types of drive genes are
oncogenes and tumor suppressor genes
oncogenes are what
don’t want expressed; activated
tumor suppressor genes are due to what
mutations act causes loss of expression of protein that control cancer development
what percentage of mutations result in hereditary cancer syndromes
<5%
There is a two-hit theory of tumor suppressor gene inactivation in cancer, for mendelian or sporadic cancer, the second-hit mutation is
-> always somatic
first hit in Mendelian is germline, second is somatic
first hit in Sporadic is somatic, second is somatic
the gene TP53 codes for what protein and function
p53 and cell cycle regulation
the gene BRCA1 BRCA2 code from what protein and function
BRCA1 BRCA2; chromosome repair in response to double stranded DNA breaks
pharmacogenomics is study of
differences between individuals and how they respond to drugs due to allelic variation
what 6 genes are responsible for 90% of all used drugs
CYP1A1, CYP1A2, CYP2C9, CYP2C19, CYP2D6, and CYP3A4
poor metabolizers result in
overdosing of medication due to accumulation of drug
ultrafast metabolizers results in
under dosing of medication due to failing to maintain serum levels
