REVIEW PA SIS
when gametes (egg and sperm) form.
Genetics – branch of science concerned with genes,
heredity, and variation in living organisms.
Genotype - gene or genetic make-up that each progeny
will have.
Phenotype - the trait and outward appearance observed
in an organisms.
Dominant – if phenotype is fully expressed.
Recessive – if phenotype remains unexpressed.
Heterozygous – alleles are different from one another.
Example: Aa
Homozygous – alleles are the same. Example: AA, aa
Punnett Square – s a square diagram that is used to
predict the genotypes of a particular cross or breeding
experiment.
Gregor Mendel – humble monk, part-time scientist,
founder of the entire discipline of genetics.
Mendelian Laws of Inheritance:
1. Law of Dominance – dominant allele covers the
recessive allele. Dominant allele produces the
same phenotype in heterozygotes and in
homozygotes.
2. Law of Segregation - chromosome pairs (and
their alleles) are separated into individual
gametes (eggs or sperm) to transmit genetic
information to offspring. Example: ABCD = AC
AD BC BD
3. Law of Independent Assortment - genes for
different traits pass independently.
Homologous chromosome – carry the same sequence of
genes; however, not the necessarily the same alleles for
those genes.
Sex Linkage – applies to genes in the sex chromosomes.
Genes are considered sex-linked because their
expression and inheritance patterns differ between
males and females.
Sex Chromosomes - determine whether an individual is
male or female.
*Females have two X chromosomes, and males have an
X and a Y.
*Autosomes are non-sex chromosomes.
Recombination – process that happens to chromosomes
*During recombination, homologous chromosomes pair
up and exchange stretches of DNA. Recombination
makes new allele combinations, which can then be
passed to offspring.
Sex-linked - refers to any genes associated with the
chromosomal sex of an individual.
X-linked – sex-linked trait that is found on X
chromosomes.
 Color blindness -An X-linked recessive trait
where a affected individual could not distinguish
red from green color (red green color blindness)
 Hemophilia - X-linked recessive trait where an
affected individual suffers from delayed blood
clotting during injuries because of the absence of
certain blood clotting factors.
Y-linked – sex-linked trait that is found on Y
chromosomes.
 Hypertrichosis pinnaeauris - Y-linked trait where
affected males have hair growing from their
external ears.
Sex-influenced traits - Any trait in a diploid organism
whose expression is affected by an individual’s biological
sex. A trait that occurs at a higher frequency in one sex
over the other.
Sex-limited traits - Any trait in a diploid organism whose
expression is limited to just one biological sex.
Typical and Non Mendelian Inheritance:
 Mosaicism - condition in which cells within the
same person have a different genetic makeup.
 Genomic Imprinting - refers to certain genes
that are differentially inactivated or switched off
during gamete formation. Example: Prader Willi
and Angelman Syndromes.
 Mitochondrial diseases - clinically
heterogeneous group of disorders that arise as a
result of dysfunction of the mitochondrial
respiratory chain. Example: Pearson syndrome,
leber optic atrophy, mitochondrial myopathies
 Epistasis - type of polygenic inheritance where
the alleles at one gene locus can hide or prevent
the expression of alleles at a second gene locus.
Pedigree - Making use of diagrams showing the ancestral
relationships and transmission of genetic traits over
several generations in a family.
Uses of Pedigree:
 Determine the mode of inheritance
 Determine the probability of an affected
offspring for a given cross.
*Each generation is shown in Roman numerals and each
individual is numbered.
Hallmarks of Autosomal Recessive:
1. Males and females are equally likely to be
affected.
2. On average, the recurrence risk to the unborn
sibling of an affected individual is 1/4.
3. The trait is characteristically found in siblings,
not parents of affected or the offspring of
affected.
4. Parents of affected children may be related. The
rarer the trait in the general population, the
more likely a consanguineous mating is involved.
Hallmarks of Autosomal Dominant:
1. All unaffected are dd.
2. Affected children of an affected parent and an
unaffected parent must be heterozygous Dd,
because they inherited a d allele from the
unaffected parent.
3. The affected parents of an unaffected child must
be heterozygotes Dd, since they both passed a d
allele to their child.
4. Outsider rule for dominant autosomal pedigrees:
An affected outsider (a person with no known
parents) is assumed to be heterozygous (Dd).
5. If both parents are heterozygous Dd x Dd, their
affected offspring have a 2/3 chance of being Dd
and a 1/3 chance of being DD.
Hallmarks for Y-linked:
1. Traits on the Y chromosome are only found in
males, never in females.
2. The father’s traits are passed to all sons.
3. Dominance is irrelevant: there is only 1 copy of
each Y-linked gene (hemizygous).
Hallmarks for X-linked:
1. The trait should appear in all daughters of an
affected male.
2. The sons of affected fathers will always be
normal because they obtained the Y
chromosome from their father and not the X
chromosome with the allele in question.
3. Mothers pass their X’s to both sons and
daughters.
Hallmarks of X-linked Recessive:
1. The trait appears in approximately half of the
male offspring from a normal female.
2. Maternal effect genes are usually recessive.
3. Males get their X from their mother.
4. Fathers pass their X to daughters only.
5. Females express it only if they get a copy from
both parents.
Hallmarks of Mitochondrial:
1. Mitochondria are only inherited from the
mother.
2. If a female has a mitochondrial trait, all of her
offspring inherit it.
3. If a male has a mitochondrial trait, none of his
offspring inherit it.
4. Note that only 1 allele is present in each
individual, so dominance is not an issue.
DNA - set of instructions needed to make a living thing. DNA –Self-replicating molecule that is present in almost
It is the blueprint of life. Stands for deoxyribonucleic acid. all living organisms.
Nucleotide - composed of an N-base, sugar DNA Replication (Genomics):
(deoxyribose) and a phosphate group.
 Happens in the S phase of cell division. (nucleus)
Function of DNA:  DNA is replicated in a semi-conservative manner.
 DNA strands separate and serve as templates for
 repository of genetic information
the production of new DNA molecules.
 sequence of bases
 encodes the blueprint for life processes Enzymes and their functions:
Functions of RNA: DNA Helicase – unwinds molecules

 Information in the form of base sequence is DNA Gyrase (topiosemerase II) – opens up the strands
transformed (transcribed) into mRNA, tRNA and
Single strand binding proteins – keeps DNA from
rRNA.
reannealing
 DNA is the template copied into RNA by base
pairing. G with C; A with U. Primase – synthesizes the RNA primer. Makes primer.
Starting point of polymerase.
4 Levels of protein structure:
Primer – a piece of RNA.
1. Primary – sequence of amino acids (letters)
2. Secondary – interaction between adjacent DNA-polymerase III – synthesizes in the 5’ to 3’ direction.
amino acids (words)
3. Tertiary – 3D folding of the polypeptide DNA-polymerase I – removes primer. Repairs any
(sentences) missing binding protein in DNA.
4. Quaternary – arrangement of multiple DNA ligase – makes a phosphor-di-ester bond which
polypeptide (paragraphs) glues the new and old DNA strands together.
Physical Functional *Cytosine forms 3 hydrogen bonds with guanine.
Biomolecule Property Relevance
*Thymine makes 2 hydrogen bonds with adenine.
DNA Complementary Allows each *Strands of DNA are antiparallel.
base pairs strand to serve
as a template Transcription/RNA synthesis (Transcriptomics)
for replication - Happens in the nucleus.
and - Process of making RNA from DNA template
transcription.
Initiation
RNA Uracil Nitrogenous
base found only - RNA polymerase attaches to a promoter (TATA)
in RNA located upstream from the gene being
transcribed.
Protein Amino (N) Start of - Attachment is made possible by polypeptide
Terminus polypeptide sigma.
chain - Initiation will not start unless ATP is absorbed by
Amino (C) enzymes.
Terminus End of *Downstream is 3’ to 5’. Upstream is 5’ to 3’.
polypeptide
Peptide bond chain Elongation
- Enzymes attached to the TATA box will go
Links amino acid
downstream and create the RNA.
together
 Termination V. selection process to screen which cells
actually contain the gene of interest
- Enzymes reach the end of the DNA template. VI. sequencing of the gene to find out the
Translation (Proteromics) primary structure of the protein

- Happens in the nucleus EcoRI – is a restriction enzyme found in Escherichia coli.

- mRNA goes to cytoplasm to direct translation Targets G AATTC.
- synthesis of protein from mRNA template
Foreign DNA can be inserted to cells by:
Initiation
 Heat shock
- A small unit of ribosome attaches itself to the  Electroporation
methylated cup.  Viruses
- The large unit of ribosome follows.  Gene gun (biolistic)
- tRNA brings the equivalent amino acid to the
Gel electrophoresis - technique that uses a gel made of
ribosome.
a polymer as a molecular sieve to separate out a mixture
Elongation of nucleic acids (or proteins) on the basis of size,
electrical charge, and other physical properties.
- tRNA goes from the A site to the P site and binds
together forming an amino acids chain.
Termination
- end of translation
*P site – peptidyl site
*A site – aminoacyl site
Peptidyl transferase – creates/ facilitates creation of
polypeptide bonds which binds amino acids together.
Aminoacyl tRNA synthetase – makes sure that the
amino acids that tRNAs bring are correct.
*for every amino acid, there is a corresponding
aminoacyl.

Classical Breeding - focuses on the mating of organisms

with desirable qualities.
Recombinant DNA Technology - joining together of DNA
molecules from two different species that are inserted
into a host organism to produce new genetic
combinations.
General Outline of Recombinant DNA:
I. cutting or cleavage of DNA by restriction
enzymes (REs) – isolation of gene of interest
II. selection of an appropriate vector or vehicle
which would propagate the recombinant
DNA
III. ligation (join together) of the gene of
interest with the vector
IV. transfer of the recombinant plasmid into a
host cell