Genetics 2/13/2014 9:48:00 AM

Genes: physical units of heredity.

Chromosomes: single long molecules of DNA associated w/different kinds
of protein.
Homologous pairs: in sexually reproducing organisms carry genes
for the same traits in the same order on each member of the pair
Phenotype: observable trait of organism
Genotype: genetic constitution of organism
Alleles: alternative forms of a gene

The modern synthesis of evolution merges evolutionary theory with
experimental and molecular population biology.

Four Processes lead to changes in Allele Frequencies in a Population:
Mutation: the slow addition of allelic variants that increase the
diversity of a population and serve as raw material of evolutionary
change.
Random genetic drift: the random change of allele frequencies
due to chance in rapidly mating populations.
Natural Selection: the differential reproductive success of
members of a species, due to possession of different forms of
adaptive characters; those forms that are best adapted will increase
in a population.
Migration: the movement of members of a species from one
population to another can rapidly alter allele frequencies.

Genome: the complete set of genetic information carried by a species.
By the 1980s, scientists began to study and compare entire
genomes.
In 2001, scientific groups (in collaboration) published a first draft of
the human genome.

In the 1960s the mechanisms of transcription and translation were
laid out.
The genetic code was deciphered.
1970s: cloning and development of recombinant DNA technology
progressed rapidly.

Phenotypic variation reflects genetic variation (allele variation).
Offspring inherit and express the alleles responsible for phenotypic
variation in their parents.
Organisms carrying certain allele variants have a reproductive
advantage over those who do not.

Evolution has a Molecular Basis
Life is not static or uniform; it evolves as DNA acquires mutational
changes.
The biochemical processes that replicate DNA and express genetic
information are universal.
Life on Earth most likely originated from a single source 3.5-4BYA

Transcription and Translation express Genes:
The central dogma of biology describes the flow of hereditary
information between DNA, RNA, and protein.

mRNA specifies an amino acid sequence using the genetic code.
There are 64 possible triplet codons, read in the 5 to 3 direction.
There are 20 common amino acids; some amino acids are specified
by one codon and others by up to six different codons.
Translation converts mRNA into a sequence of amino acids joined
by covalent peptide bonds at the ribosome.
The resulting polypeptide, upon folding, makes up all or part of a
protein.
Each amino acid is specified by a codon, three consecutive
nucleotides on the mRNA.

Gene structure in bacteria and eukaryotes:
Coding sequences contain info to be transcribed into RNA.















Promoters help regulate the initiation of transcription, which begins near
start of transcription.
Transcription ends at the termination sequence.
Eukaryotic genes have exons, with coding information and introns that are
removed from the transcript prior to translation.

The DNA coding strand and the mRNA transcript have the same polarity and
sequence, but substitute U in mRNA for T in DNA.

Reverse transcription uses reverse transcriptase and an RNA template
(from RNA-containing viruses) to produce complementary DNA.

Micro-RNAs are small RNA molecules with roles in regulation of gene
expression in plants and animals.

Chargaff discovered that for most organisms the percentage of A and T are
equal, and the percentage of G and C are equal.
Watson and Crick used this rule to formulate the hypothesis that nucleotides
are arranged as complementary base pairs (A with T and C with G).

Watson and Crick published DNA structure in 1953.
Double helix with sugar phosphate backbones on the outside and
nucleotide bases arrayed in complementary pairs toward the center.
Other researchers made significant contributions to understanding
DNA structure.

Phenotype: the observable traits of an organism.
Genotype: the genetic constitution of an organism.
Alleles: alternative (variant) forms of a gene.

Transmission genetics (Mendelian genetics)
The study of the transmission of traits in successive generations.
Evolutionary genetics
Studies the origins of and genetic relationships between organisms
and evolution of genes and genomes.
Molecular genetics
Studies inheritance and variation of nucleic acids and proteins.

Garrod (1901) described the inheritance of a disorder called
alkaptonuria in humans.
Bateson, a proponent of mendelism recognized that the trait must
be a rare, recessive character
Soon after, Sutton and Boveri independently observed chromosome
movement during cell division.

CH. 2
Transmission genetics

Mendels First Law:
Segregation
Two members of a gene pair (alleles) segregate from each other in the
formation of gametes; half the gametes carry one allele and the other half
carry the other allele.
Members of a pair of alleles segregate during meiosis and that each offspring
receives only one allele from each parent.
THUS, gene segregation parallels separation of homologous pairs of
chromosomes at anaphase I in meiosis.

We now know genes are on chromosomes; specific location of a gene on a
chromosome is called its locus.

Probability
Product Rule
2 or more events independent of one another, likelihood of their
simultaneous or consecutive occurrence is the product of the
probabilities of each one individually.
Sum Rule or
Probability of two or more equivalent events
Calculate probability of event when it can be one of two or more
events.
o P(A or B) = P(A) + P(B)
Mutually exclusive events: one event does not affect the other
Ex: getting a 4 or 5 on dice roll
Getting a four or even number are NOT mutually exclusive

Forked-line method:
used to determine gamete and genotypes and frequencies
Multihybrid crosses
Treating the cross as separate monohybrids
Apply product rule to calculate probabilities
Probabilty of each possible phenotype from this cross
YyRr x YyRr?
Use product rule because yellow/green & round/wrinkled are not mutually
exclusive

Mendel predicted that alleles of each locus unite at random to produce the
F2, generating
round, yellow R-G- ()() 9/16
round, green R-gg ()() 3/16
wrinkled, yellow rrG- ()() 3/16
wrinkled, green rrgg ()() 1/16

Conditional Probability
The product and sum rules are used before a cross to predict the likelihood
of certain outcomes.

Chi-Square Analysis

2
= (o-e)
2
/ e


2/13/2014 9:48:00 AM

2/13/2014 9:48:00 AM