Mutation Flashcards
Is the process that
produces an alteration in DNA or
chromosome structure; in genes, they are ____
Mutation; source of new alleles
Reveal the
Functions of Genes
Mutation
The analysis of gene
functions depends on ___ & ____
Genetics & Biochemistry
Genetics starts w/ the study of
_____: one either finds or
make an organism in w/c a gene is
altered & examine the effects
of the organism’s structure &
function.
Mutants
directly examines functions of
molecules from an organism &
then study their chemical
activities.
Biochemistry
provide the best way to
relate genes & molecules to
the structure & function of an
organism.
Genetics & biochemistry
used in combination with cell
biology
DNA sequence information
& the powerful tools of
molecular biology have ____
accelerated progress
Specific subregions w/in the gene
can be identified that have been
preserved or unchanged over the
course of time.
Conserved Regions
rarely mutate; the most important parts of the
gene in terms of function
Conserved Regions
contributions of the CONSERVED
REGIONS can be tested by creating
mutations of _____ within a gene or by ____ that combine part of one gene with part of another
specific sites; constructing artificial hybrid genes
The Y chromosome has ____on both ends. In between the two PARS,
there is the ____
PAR (pseudoautosomal
region) ; NRY (non-recombining region of the YChromosome)
considered conserved because
during meiosis this part of the region does not
undergo recombination or crossing over.
NRY (non-recombining region of the YChromosome)
an international scientific research
project with/ the goal of determining the sequence of nucleotide base pairs making up human DNA, & of identifying & mapping all of the
genes of the human genome from both a physical & a functional standpoint.
Human Genome Project
Researchers & clinicians are using genomic
information to improve the quality of medical care
via
translational medicine
Information from Human Genome
Project & other areas of genetics is
now having ____ on
our daily lives
far-reaching effects
a process in
w/c genetic findings are directly
“translated” into new & improved
methods of diagnosis & treatment.
Translational medicine
One important area of focus of Translational Medicine is ____, w/c is
the leading cause of death
worldwide.
cardiovascular disease
One of key risk factors for development
of heart disease is presence of
elevated blood levels of “bad” cholesterol (low- density lipoprotein cholesterol, or LDL
cholesterol)
effective in lowering blood
levels of LDL cholesterol & reducing risk of
heart disease, but up to ____ of treated
individuals remain at risk and ___ prevent others from
using these drugs.
Statin drugs; 50%; serious side-effects
developing a
new generation of more effective
cholesterol-lowering drugs. But this is ___ and ___
Pharmaceutical Firms; costly and many end up failing clinical trials
play a vital role in drug
development. Blood levels of LDL in a population
vary over a 3-fold range, & about 50 % of this
variation is genetic.
Human Genetics
PCSK9 gene study shows that pairing
___ with ____
play a critical & exciting role in
speeding the drive of research findings into
medical practice
genetic research w/ drug development
Scientists study inheritance of traits in fruit flies, Drosophila
melanogaster._____ was discovered among
normal (wild-type) red-eyed flies.
White-eyed fly
are any
heritable change in the DNA sequence & are the
source of all genetic variation.
Mutation
