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purpose of mitosis
growth
recovery from injuries/illnesses
where does mitosis occur
bodily/somatic cells
purpose of meiosis
to create gametes for sexual production with half the genetic material of the parent cells
where does meiosis occur
somatic cells
examples of where meiosis occurs
males = sperm
females = eggs/ova
what does mitosis result in
identical cells that replace what was lost and replace old cells with young cells
goal of mitosis
to ensure each daughter cell receives a full set of chromosomes
process of mitosis overall
a single parent cell divides to produce 2 identical daughter cells with diploid genomes
process of meiosis overall
single diploid parent cell divides to produce 4 different daughter cells with haploid genomes
process of meiosis example overall
when a sperm and an egg join in fertilisation, the two haploid sets of chromosomes form a zygote with a complete diploid set: a genome
common process of meiosis and mitosis
interphase
explain interphase
cells grow, replicate chromosomes, prepare for cell division
chromosome pairs in humans
23
total chromosome number in a human
46
number of chromotids in a human
92
genetics meaning
study of heredity
heredity meaning
the transfer of characteristics from one generation to another
what is each characteristic determined by
one from each parent
genetype meaning
genetic makeup of an organism
phenotype meaning
expression of genes/characteristics displayed
gene meaning
encodes the info for a particular characteristic
allele meaning
alternative form of a gene
homozygous meaning
an individual carries the same allele on both the inherited mother and father's chromosomes
sex chromosome of female
xx
sex chromosome of male
xy
karyotype meaning
the arrangement of homologous pairs of chromosomes
cause of chromosomal abnormalities
having an extra copy of a chromosome = extra genes = extra protein than required
+
having fewer copies of a chromosome = fewer genes = fewer protein than required
what do proteins do
perform functions in a cell and controls its traits
effect of excess protein
can interfere with other cellular processes
effect of lack of protein
does not allow for protein to function properly
what affects proteins function
type and amount of protein
what happens when proteins don't function properly
reflected in their phenotypes: physical/intellectual differences
what happens when an unusual number of chromosomes fertilises another gamete
the resulting zygote will have an unusual number of chromosomes
purpose of pedrigrees
to identify if a trait is genetically inherited
trace the occurrence of a genetic disorder
predict the likelihood of a family member inheriting a genetic disorder
deduce the genotype of an individual
limitation of pedigrees
useful only if the organism does not produce too many offspring
requires accurate and reliable record keeping
could result in ambiguous conclusions if a family is small and too affected
x linked recessive trait
more males affected
sons of carrier mothers at higher risk
can skip generations
x linked dominant trait
can affect both males and females (more frequent in females)
fathers pass to all daughters
autosomal dominant trait
affects males and females equally
50% chance of inheritance from an affected parent
autosomal recessive trait
may appear to skip generations
siblings of affected child have a 25% risk
DNA meaning (CHONP)
a nucleic acid consisting of carbon, hydrogen, oxygen, nitrogen, phosphorus
complementary base pairings
AT, GC
what part of the nucleotide is the circle
phosphate
what part of the nucleotide is the pentagon
deoxyribose sugar
what part of the nucleotide is the rectangle
base
what holds the bases together
hydrogen bond
process of dna replication
parent dna molecule
hydrogen bonds break, dna breaks into 2 strands
each strand acts as a template and a new complementary strand of dna is formed
two identical daughter dna molecules
gene mutation meaning
permanent alteration in the nucleotide sequence of dna
effect of mutations
harmless unless they lead to cell deaths/tumours/cancers
how are hereditary/germline mutations inherited
from a parent
where are hereditary/germline mutations present
present in parent's eggs or sperm cells
+
present throughout person's life in every cell of body
how do aquired/somatic mutations occur
at some point during a person's life, caused by environmental factors
causes in gene mutations
errors in dna replication/recombination - rearranged dna
chemical damage - structure change of nucleotides
uv radiation - mismatched base pairs
codon length
3 nucleotides long
start codon
AUG
stop codon
UAA
UAG
UGA
types of dna mutations
base substitutions
insertions
deletions
types of base substitutions
silent
nonsense
missense
silent base substitution meaning
some codons code for the same protein, no observable effect
nonsense base substitution meaning
sequence no longer makes sense
missense base substitution meaning
sequence makes sense but codes for something else
insertion base meaning
insertion of bases shift the frame to altered groups of 3
deletion base meaning
deletion of bases shifts the frame to create altered groups of 3
dna mutation effect types
no effect
deleterious
advantageous
which dna mutation effect is the most common
deleterious
which dna mutation effect is the most rare
advantageous
deleterious mutation effects
affects a gene, stopping it from functioning or controlling properly, harming the organism
example of deleterious mutation effect
sickle cell anemia
advantageous mutation effects
gene enhances its function or control, to the benefit of the organism
example of advantageous mutation effect
lactase gene
gmo meaning
an organism whose genome has been altered in the laboratory to favour the expression of desired traits, often involves the insertion of genetic material from another species
selective breeding meaning
choosing parents with particular characteristics to breed together and produce offspring with more desirable characteristics
advantage of gm foods/crops
no difference among animals eating gm plants
gm foods have been eaten by millions worldwide for more than 15 years, with no ill effects
disadvantage of gm foods/crops
gm crop genes can spread to weed plants, making them resistant to herbicides
humans can accidentally eat gm foods intended for animals
whole organism cloning meaning
the creation of an exact genetic copy of the whole organism
gene cloning meaning
isolating and making multiple exact copies of a specific gene/segments of dna of an organism
recombinant dna technology
using enzymes and other laboratory techniques to isolate and manipulate dna segments of interest
what is recombinant dna technology used for
creation of gmos
manufacture of pharmaceuticals/vaccines
genetic research in university labs
gene therapy meaning
treatment of disease by transfer of healthy genetic material into cells to replace disease-causing genes
example of what gene therapy can be used for
cystic fibrosis
stem cells meaning
unspecialised cells that have the potential to become specialised
types of stem cells
embryonic
adult
induced pluripotent (IPS)
embryonic stem cell meaning
stem cells that can become any type of cell in the body
what does embryonic stem cells use
uses embryos that are a few days old
what do embryonic stem cells involve
killing a donated embryo
adult stem cell meaning
can become any of the cell type of the tissue they are found in
example of adult stem cells
stem cells in brain marrow can become blood cells
where are induced pluripotent cells found
in specific adult tissues and organs
where are induced pluripotent cells derived from
skin/blood cells
what can induced pluripotent cells develop into
unlimited source of any type of human cell
what have induced pluripotent cells been reprogrammed into
embryonic like state