B13 - Gene expression Flashcards
gene expression
-gene codes for a protein that is synthesised in the cell
non coding parts of dna
each gene controls
-synthesis of many proteins
variations in genes
affects how genes are expressed (phenotype)
phenotype
-the physical appearance or biochemistry of an organism
mutation
- changes in existing genes = new form of genes
-usually harmless
mutation can
-change a protein produced/shape
-so it loses its function
-or produce a more efficient protein
mutations in non coding DNA
-may not affect the phenotype
-can affect which genes are on/off
changing genes that are expressed =
changes phenotype
alleles
different forms of genes
-codes for diff proteins
-combination of these are inherited characteristic
homozygote
an individual with two identical alleles for a characteristic
homozygote eg
BB
bb
heterozygote
an individual with a different alleles for a charcateristic
heterozygote eg
Bb
genotype
alleles present or genetic makeup of an individual
-regarding a particular characteristic
genotype eg
BB, Bb, bb
phenotype affects
physical appearance
genetic cross
-consider potential offspring that might result from two known parents
A dominant disease genotype
BB Bb not bb
Recessive disease genotype
bb
carriers = Bb
not = BB
dominant gene in phenotype
always expressed
-even if only one copy is present
recessive allele is expressed
only when 2 copies are present
sex determination
determines sex of offsring
female chrmosome
XX
male chromosome
XY
Y is very small and carries fewer genes
sex chromosome process
cells undergo meiosis to form gametes
-one sex chromosome goes into each gamete
-egge cells al have X
sperm cells half = Y and half = X
other 22 chromosome structure
similarly shaped
-control general body charcteristic
inherited disorders
results of change in bases or coding of genes
-passed down from parents
polydactyly
babies are born with extra finger or toes
-caused by the dominant allele
chances for heterozygous to pass polydactyly on
50%
chances for homosygous to pass polydactyly on
100%
cystic fibrosis
-mucus made by cells = thick
-lungs become clogged
-pancreas cannot secret enzymes as tubes are blocked
-infertility
treatment for cystic fibrosis
-physiotherapy
antibiotics
-enzymes are replaced
but no cure
cystic fibrosis caused by
recessive gene
-must be inherited by both parents
-carriers have no symptoms
genetic engineering
replace faulty genes with healthy genes
screening embryos
-harvest eggs from individual
Amniocentesis takes place at
15-16 weeks
Amniocentesis
fluid is screened
as it contains fetal cells
Chorionic villus takes place between
10-12 weeks
Chorionic villus
sampling embryonic cells from tissue of placenta
screening IVF
-embryos are tested before implanted
pros of screening
parents are able to decide to prepare or terminate pregnancy
Concerns of screening
-increase risk of miscarriage
- false results
-ethical/religious concerns
-expensive
-rise in designer babies = parents choose phenotype