Mendel’s Laws of Heredity:

1) Principle of Unit Characters - inherited traits are controlled by paired factors

(genes), with one factor coming from each parent
2) Principle (Law) of Segregation - a pair of genes are separated, or segregated, during
the formation of gametes (specifically they are segregated during meiosis I
and separated during meiosis II)
- arose from Mendel’s studies of how F2 generations came about
3) Principle of Dominance - one factor (gene) in a pair can mask the other factor, or
prevent it from having an effect
- from this we got dominant (T) and recessive (t) genes
4) Law of Independent Assortment - different gene pairs are separated and sent
independently to different gametes ex. a pair of genes for stem length
separate independently of another pair affecting flower colour

Terms to know: dominant, recessive, gene, chromosome, chromatid, filial, F1, filial
one, F2, filial two, offspring, Punnett Square, phenotype, genotype, meiosis,
haploid, diploid, egg, ootid, sperm, oocyte, spermatocyte, zygote, gamete,
gametogenesis, codon, mRNA, tRNA, crossing over, tetrad, synapsis, centriole, spindle,
gene map, double helix, nucleotides, proteins, enzymes, amino acids

- homozygous - a pair of genes are the same (TT or tt)

- heterozygous - a pair of genes are different (Tt) - also called hybrid
- homologous - a pair of similar chromosomes
- sex chromosomes - the 23rd pair
- autosomatic or somatic chromosomes - the other 44 chromosomes

- monohybrid cross - different genes for one trait are crossed to produce a hybrid (Tt)
- dihybrid cross - different genes for two traits are crossed to produce a heterozygote
(TtRr)

- with one set of genes you get a 3:1 ratio of dominant to recessive phenotypes (ex.
brown haired people to blond) in the population and a 1:2:1 genotypic ratio
(TT Tt Tt tt)
- this is the most probable outcome, not what has to happen. You could get 4
sets of TT or 3 tt and one Tt (law of probability)
- a heterozygous dihybrid cross has a genotypic ratio of 1:2:1:2:4:2:1:2:1 and a
phenotypic ratio of 9:3:3:1
- in other words, the odds of getting a ttRr genotype is 2/16 or 1/8 and of
getting tall round phenotypes is 9/16

- Codominance - both genes have an effect, get a mixture of both, like purple and
white violets crossed to get striped flowers, or roan horse (you see roan from
the mixture of white and reddish brown hairs)
- Incomplete dominance - neither gene can truly dominate the other, produces a
‘blending’ effect, like with red and white flowers crossed to make pink
Biotechnology and breeding
- artificial (mass) selection - breed the plants/animals you like the best,
prevent other plants/animals from reproducing
- controlled breeding - same as above
- inbreeding (line breeding) - breeding closely related individuals, to establish
a ‘pure breed’
- crossbreeding - opposite of inbreeding, mate different breeds to produce a
hybrid, can get hybrid vigor, where the hybrid is stronger and healthier
than the parents; these hybrids are often infertile
- polyploidy - breeding plants to get a diploid gamete and thus a polyploid
zygote
- cloning - occurs naturally during asexual reproduction; can also be done by
replacing an egg cell nucleus with a parent nucleus
- artificial insemination - fertilizing the egg outside the body with preselected
sperm
- embryo transplants - putting embryos into more females to increase
reproduction
- recombinant DNA - splicing genes from one organism into chromosomes in
another individual from another species
- Dominant human traits - curling the tongue, freckles, long eyelashes, cleft chin
- recessive human traits - no freckles, red hair, blue eyes
- gene linkage - the arrangement of genes in specific locations
- DNA - deoxyribose nucleic acid
- RNA - ribose nucleic acid
- nucleotide - made up of a deoxyribose sugar, phosphoric acid, nitrogen base
- DNA nitrogen bases - thymine, adenine, guanine, cytosine
- RNA has uracil instead of thymine
- codon - three nitrogen bases in a row; each codes for an amino acid
- gene - a sequence of codons that direct the formation of one protein
- sometimes one gene pair creates a trait (blood type), more commonly multiple gene
pairs create traits (eye colour)
- mutations can be caused by: radiation, chemicals, smoke, drugs
- so nucleotides (made up of a phosphoric acid, a nitrogen base, and a sugar) make
up the DNA strand; a set of three nitrogen bases forms a triplet (called a
codon) and codons are organized into genes (which control the synthesis of
a protein)
- some enzymes - polymerase (fuses DNA), ligase (glues together DNA),
endonuclease( cuts DNA), RFLP (cuts DNA)
- DNA Replication - the DNA molecule is the only molecule known that can
duplicate itself
- DNA’s nitrogen bases (A, T, G, C) are broken and ‘unzip’
- each parent strand then acts as a mold to which free floating nucleotides attach
- the new nucleotides are fused to the old by enzymes called polymerases using a
ligase enzyme as ‘glue’ (these extra nucleotides come from the food we eat)
- cytosine with guanine, adenine with thymine
- Protein Synthesis - proteins are made up of 20 amino acids
- by controlling the creation of protein, our DNA determines our phenotype
- ribosomes make proteins on the instructions sent out by genes
1) Transcription
- DNA does not leave the nucleus during protein synthesis; instead a carrier molecule
called a messenger RNA (or mRNA) reads the DNA code and takes the message
to the ribosomes
- RNA is very similar to DNA except:
- RNA has no thymine; instead it has uracil (uracil is missing a CH3
molecule that thymine has)
a) the DNA strand is ‘unzipped’ by a special enzyme and uncoils
b) nucleotides from the mRNA find the proper nitrogen base (cytosine with
guanine, adenine with uracil) and pairs with it (on one strand only)
c) soon the mRNA nucleotides are joined into a long chain to form a
transcript (copy) of the unpaired strand and then it moves away from the
DNA strand
d) the mRNA then osmoses out the nucleus and into a ribosome to deliver the
protein synthesis code
e) the 2 DNA strands then rejoin

2) Translation
a) mRNA attaches itself to the ribosome like a ribbon
b) an initiator codon turns on protein synthesis
c) another type of RNA, transfer RNA (tRNA) picks up amino acids circulating in the
cytoplasm and takes then to the mRNA; tRNA molecules only pick up amino acids
that ‘fit’ with their anticodon
d) the tRNA has 3 nitrogen bases called anti-codons; the tRNA will join with mRNA
only at a ribosome and only where the codon and anticodon bases match and
make a set of 3 pairs
e) the tRNA places its amino acid in the ribosome and move off to find another amino
acid
f) the mRNA moves along the ribosome like a typewriter ribbon, exposing new
codons for fitting with tRNA anticodons
g) the amino acids dropped off by the tRNA form long chains which become proteins
h) once the protein molecule has been built a terminator codon in mRNA turns off the
process, releasing the protein and separating the ribosome and mRNA strand and
any attached tRNA
- the sequence of the mRNA determines the sequence of the amino acids and thus the
protein; the mRNA is based on the DNA gene, of course
- the codons from the initiator to the terminator form the gene

- mutations can arise from: a lack of proper nucleotide material for replication; DNA
damaged by x-rays is spliced back together wrong;
- mutations will be replicated when the cell divides
- a well-known mutation is sickle-cell anemia; red blood cells will be unable to carry
oxygen; another mutation causes hemophilia; a mutated X chromosome carries
the recessive gene which produces the incorrect protein
- kinds of mutations: deletion, duplication, inversion, translocation

- Gene Mapping - trying to create an accurate map of where genes are, what they look
like (genotype) and what they do
 a) done by splicing chromosomes into other nuclei (like from a mouse)
and seeing what protein is produced
b) RFLPs cut DNA strands, which are put onto a thin electrophorestic gel
strip and electricity is sent through, pulling the strands, with the
shorter strands moving farther; then radioactive labels are mixed with the gel to
form a distinct banding pattern, which tells the sequence of the DNA
- genome - the complete set of instructions carried on your DNA
- it was thought only five years ago that the human genome would take decades to
map, yet it was basically done in 1998
- gene mapping is done to identify what specific genes do and where they are located;
this can help in identifying mutations, genetic disorders, and treatments

- if you get XX you are a girl, XY makes a boy

- meiosis is the division of a cell, nucleus and all, into 2 equal halves
- each daughter cell is a gamete, either a sperm or egg; in humans a gamete has 23
chromosomes (haploid, called n), a parent cell has 46 (diploid, called 2n)
- when two gametes merge you get a zygote
- if the zygote is normal the cell will begin dividing by mitosis and make a multicellular
human baby
- sexual reproduction ensures a greater variety of offspring than asexual because the
gametes come from different individuals with different genes
- the Mom-Dad chromosomes are called homologous pairs because they are
similar in size, shape, and gene arrangement
- a chromosome is made up of 2 sister chromatids
- in animals, meiosis takes place in the testes and ovaries
- meiosis involves two cell divisions to form 4 haploid cells;
a) Meiosis I: a 46 chromosome cell divides into 2 23 chromosome cells; also called
reduction division because the diploid cell becomes two haploids
1) Prophase I: nuclear membrane dissolves, centrioles split and move, spindle
fibres form; the chromosomes come together in homologous pairs called tetrads;
the homologous pairs often intertwine forming a synapsis; sometimes the
intertwined chromosomes break and exchange segments (called crossing over)
2) Metaphase I: homologous chromosomes attach to the spindles and line up at
the equatorial plate
3) Anaphase I: homologous chromosomes move towards opposite ends
(segregation); one of each homologous pair will be found in each daughter cell
(reduction division)
4) Telophase I: cytoplasm divides, forming new cells
- unlike in mitosis, the daughter cells are alike but not identical
- interkinesis follows, then the next step
b) Meiosis II: happens in both daughter cells at about the same time
1) Prophase II: nuclear membrane dissolves, centrioles split and move, spindle
fibres form
2) Metaphase II: chromatid sisters attach to the spindles and line up at the
equatorial plate
3) Anaphase II: chromatid sisters move towards opposite ends (separation); one
of each sister chromatid will be found in each daughter cell
4) Telophase I: cytoplasm divides, forming new cells
- end up with 4 daughter cells, four gametes
- oocytes only divide until a girl reaches puberty; females are born with about 400 000
ootids; only about 400 ever mature
- sex chromosomes are the 23rd chromosome pair and are not homologous in males
(XY)
- autosomes are not sex chromosomes (you have 44 of them in each cell)
- if you have a Y chromosome you will be a male
- certain disorders result from having too many or too few chromosomes, including
sex chromosomes; if you have 3 chromosomes in what normally would be pair
21 you will have Down’s Syndrome;
- An XXY male has Klinefelter syndrome; an X female has Turner syndrome; a XXX
female often is infertile and possibly mentally disabled
- these occur when nondisjunction occurs; during meiosis sometimes chromosome
pairs do not separate (which could result in a XX egg, XY sperm, or an O sperm or egg,
no 23rd chromosome)
- Sex-linked traits - red-green colour blindness, hemophilia, muscular
dystrophy
- genetic screening - analyzing DNA to find if certain genotypes are present
- genetic screening can be used to detect genetic disorders so that they can be t
treated, such as cystic fibrosis; gametes could be screened for certain genes and
artificial insemination used to create a healthy zygote
- it can also be used to find tendencies to develop disorders or disease, like
heart disease, broken bones, schizophrenia, and cancer; tendencies do not mean
you will get any disease or problem, just that you are more likely to
- the sum of all the genes in the human population (or any population) make up
the gene pool
- the bigger the gene pool, the more variety a species has

Evolution factors
A) Mutations
B) Migration also called gene flow
C) Genetic drift
D) Artificial or Natural Selection
E) Sexual Selection - this can cause certain traits to disappear in a species or
possibly a new species to arise (speciation)
- Hardy-Weinberg principle - if all other factors remain constant the gene pool will
remain stable; based on laws of probability
- found by: p2 + 2pq + q2 = 1
where p = frequency of gene T in a population
q = frequency of gene t in a population