ë


  



1. Mendel described particulate inheritance.

2. Watson and Crick described nature of the coded instructions.
3. Evolutionary theory is based on common ancestral groups;
genetics establishes this lineage.
4. Genes guide the organization and orderly sequence of
differentiation.
5. Genetics accounts for resemblance, fidelity of reproduction,
and variation.
6. Genetics is a major unifying concept of biology.

 
 

1. Gregor Mendel conducted his plant breeding experiments

from 1856ʹ1864.
2. His discoveries were published in 1866, but not appreciated
until 1900, 16 years after his death.
3. Genes and chromosomes were as yet unknown; his
experiments were based on crossbreeding.
a. Mendel carefully controlled pollination of pea plant
stigmas by stamens.
b. Mendel carefully documented offspring of different
parents (hybrids) and then crossed the hybrids.
§ §
  


1. Sex cells (gametes) were recognized as providing genetic

information to offspring.
2. Nuclei of sex cells, especially chromosomes, were suspected of
being the hereditary material.
3. Meiosis: Reduction Division of Gametes
a. Animal species differ greatly in the number of chromosomes
but, in all species, each body cell has two  
chromosomes; one from each pair came from each parent.
b. In meiosis, a single replication of the genetic material is
followed by two rounds of cell division resulting in gametes
with one member of each homologous pair.
c. Therefore a body cell is (containing two sets of
chromosomes), a gamete is (containing a single
set), and fertilization results in a diploid zygote.
d. The diploid (2n) number in humans is 46 chromosomes;
gametes are haploid with 23.
e. In haploid cells, each organism has two genes for each trait,
one on each homologous chromosome.
f. Alternative forms of a gene are called ; one or both
may have an effect and either may be passed on to
progeny6
g. Most unique features of meiosis occur in prophase of first
meiotic division.
1) The two members of each pair of homologous
chromosomes align side-by-side to form a P
.
2) Each chromosome has already replicated to form two

, joined at the centromere.
3) The complex of four future chromosomes is a 
.
4) The location of any one gene is the gene .
5) In side-by-side contact (synapsis), the gene loci on a
chromosome align.
6) In preparation for division, the centromeres holding
chromatids together do not divide; the dyads are
pulled to each pole.
7) At end of first meiotic division, daughter cells contain
one of each homologous chromosome, still joined at
centromeres.
8) At end of second meiotic division, dyads are split and
each daughter cell contains one haploid set and one
allele of each gene.
4. Sex Determination ë  
  

a. McClung, in 1902, studied bugs.

1) Half the sperm lacked one chromosome found in the
other half and in all eggs.
2) When the sperm with the full number fertilized an egg,
a female resulted; when a sperm lacking one
chromosome fertilized an egg, it produced a male.
3) 
 were those that determined sex;
 were the remainder.
4) The bug͛s sex determination system is called XX-XO
indicating the missing chromosome as ͞O.͟
b. Humans and many others use an XX-XY system; the male
has the different sex chromosomes.
1) Half the sperm carry X and half carry Y; they fertilize an X
egg to produce 50% of each sex in their offspring.
2) The Y chromosome is smaller than the X and contains
fewer genes.
c. Birds, moths, butterflies, and some fish use an XX-XY
system but the female is the XY.
d. Some animals across many taxa use environmental and
behavioral conditions rather than sex chromosomes.
1) In crocodiles, turtles and lizards, temperature of the nest
determines sex ratio; lower temperatures may produce
females, higher produce males.
2) Some fish are hermaphroditic and sensory stimuli trigger
male or female development.
 
  


A.
 

1. In the 
 , during formation of gametes,
paired factors segregate independently.
a. The phenotype is the visible characteristic.
b. Tall and dwarf plants produce tall F1 progeny;
hence there is no blending.
c. Self-pollinating the F1 progeny produce tall and short
in a 3:1 ratio; again there was no blending and this ratio
held for crosses of six other traits6
2. 0
a. Mendel called the tall factor ; when it was present
the

 factor is not expressed.
b. Recessive traits appear only when both factors are present, a
͞pure͟ condition.
c. Capitalized letters represent dominant factors, and the
corresponding lower case letter represents the recessive
alternative factors.
d. T/t represents the complete genetic constitution of the
plant͛s traits for height; T and t are the possible gametes.
e. T/t and other unlike combinations form a 
 ! .
f. T/T and t/t are  ! .
g. T/T, T/t and t/t are the possible !.
h. A cross involving one pair of contrasting traits is a
monohybrid cross.
3. "#

 " #

a. Various combinations resulting from available gametes are
shown using a Punnett square.
b. This allows a T/t x T/t cross to represent the 3:1 ratio.
c. Additional crosses of the progeny demonstrated that one-
third of the tall was TT and two-thirds were T/t.
d. The short plants, or t/t, always gave rise to short plants
when self-fertilized.

4. $

a. Products of a monohybrid cross have T/t individuals hidden
among the T/T.
b. To reveal them, a testcross mates each with a pure recessive.
c. If homozygous (T/T), the testcross yields all tall.
d. If heterozygous (T/t), the testcross yields half tall and half
short.
 
  
ë  
 

a. Sometimes, neither allele is completely dominant, resulting

in intermediate inheritance or .
b. Red and white homozygous four-o-clock flowers cross to
form heterozygous pink flowers.
c. Chickens with black feathers crossed with splashed white
feathered chickens yield blue Andalusian chickens.
d. This appears to produce a blending of traits, but additional
crosses will reveal the traits are present and still able to
be expressed with the appropriate testcross.

ë  
 %

1. The 
 states that genes

located on different pairs of homologous chromosomes
assort independently during meiosis.
a. This deals with two different characters on two different
chromosomes.
b. When tall plants with yellow seeds (both dominant traits)
were crossed with dwarf plants with green seeds, the F1
plants were all tall and yellow as expected.
c. When the F1 hybrids were self-fertilized, a &'''(

resulted, which is a combination of the two 3:1 ratios for
each set or a dihybrid cross.
d. Segregation of alleles for heights was independent of
segregation of alleles for seed color.
 "
PP!

a. All genotypes of gametes of one sex have an equal chance of

uniting with all genotypes of gametes of the other sex.
b. The probability of two independent events occurring together
is the product of their individual probabilities; this is the


 ë$P (
c. Probability has no ͞memory.͟
§
)

1. While only two alleles can exist at one locus, more than two
types of alleles may exist in a population.
2. For instance, rabbits may possess two alleles from among
four for coat color: C (normal), cch (chinchilla), ch
(Himalayan) and c (albino).
3. Multiple alleles arise through mutations at the same locus
over time.
0 * 


1. Many different genotypes may affect a single phenotype.

2. Many genes have more than one effect (i.e., eye color and other
features).
3. An allele at one location that masks expression of an allele at
another locus acting on the same trait is called epistasis.
4. Several sets of alleles may produce a cumulative effect on the
same character.
5. Polygenic characters show continuous variation between
extremes (blending or quantitative inheritance); skin
pigmentation in humans probably involves 3 or 4 genes.
 +,  
ë  
 - . &

1. Some traits depend on the sex of the parent carrying

the gene.
a. Hemophilia is a recessive trait on the X chromosome.
b. Red-green color blindness is also a recessive trait
and on the X chromosome.
c. Carriers are heterozygous for these genes and are
phenotypically normal.
2. The inheritance pattern is unique.

a. The X-linked trait is expressed when both are recessive

in a female but only one is present in a male.
b. When the mother is a carrier and the father is normal,
half of the sons are affected.
c. It is more prevalent in males because a single sex-linked
recessive gene in the male has a visible effect.
3. In fruit flies, the gene for eye color is carried on the X
chromosome.

a. When white-eyed males are crossed with red-eyed females,

the F1 have red eyes.
b. When the F1 is crossed, all F2 females have red eyes, half
the males have red eyes and half have white eyes.
c. Males are  !  for traits carried on the X
chromosome.
 ) ,  §
 /


1. , 
a. Not all factors segregate as stated in Mendel͛s second law.
b. Genes on the same chromosome are linked, and the traits are
inherited together.
2. Traits on the same chromosome are coded as letters without a
slash mark (i.e., AB/ab).
 §
 /

ë  
 (0

a. Linkage is not absolute; some separation of alleles on the

same chromosome occurs due to crossing over.
b. During protracted prophase of meiosis I, some paired
homologous chromosomes break and exchange equivalent
portions.
c. Crossing over exchanges genes between homologous pairs with
great frequency; crossing over occurs nearly 100% each
meiotic cycle for longer chromosomes.
d. The more distant the loci, the more likely a break will intervene.
e. The variation in crossing over allows mapping of genes on
chromosomes.
G. §
)P


1. Structural and numerical deviations from the norm that
affect many genes are chromosomal aberrations.
2. It is estimated that five of every 1,000 humans are born with
a serious genetic defect from chromosomal anomalies.
3. ! is the addition or deletion of whole sets of
chromosomes; !! is most common in plants but
animals cannot tolerate this type of chromosomal aberration.
4. )! is the addition or deletion of a single chromosome.
a. It is usually caused by failure of chromosomes to separate
during meiosis (1).
b. This results in one gamete having an extra chromosome and
one lacking a chromosome.
c. The monosomic animal (n-1) rarely survives due to uneven
balance of genetic instructions.
d. Trisomy (n+1) is more common; trisomy 21 or Down
syndrome has an extra 21st chromosome.
 

P

 involve whole sequences of genes
within a chromosome.
a. Inversions reverse the order of a segment of genes.
b. Translocation is the movement of a section of genes.
c. Deletion is loss of a block of genes.
d. Duplication adds an extra section of chromosome; they
may add additional genetic information and allow new
functions.

% *21 !
' Klinefelter syndrome

and Turner syndrome are the result of genetic
nondisjunction.
- genetic nondisjunction is the failure of chromosome
to separate during meiosis
  *$ 
!

A. *§
1. W. Johannsen coined the term ͞gene͟ in 1909 to name the
hereditary factors referred to by Mendel.
a. Originally, genes were considered indivisible units.
b. Alleles are now known to be divisible by recombination;
portions are separable.
c. Parts of eukaryote genes are separated by introns,
which are sections of DNA that do not specify a product.
B. /*3/ !4! 

1. Since genes produce different phenotypes and expression

appears to follow: gene Ͷ> gene product Ͷ> phenotypic
expression.
2. Gene products are usually proteins; proteins act as enzymes,
antibodies, hormones and structures.
3. Research with the bread mold "
 associated genes
with enzymes.
a. They were haploid and unaffected by dominance, and
irradiation easily induced mutations.
b. Each mutant strain resulted in one defective enzyme; this
discovery earned Beadle and Tatum the Nobel Prize in
1958.
c. This describes the cause of hundreds of inherited
disorders based on missing enzymes.
d. However not all proteins specified by genes are enzymes,
etc. and some genes direct synthesis of transfer RNA.
e. A gene is now defined more inclusively as a nucleic acid
sequence that encodes a functional polypeptide or RNA
sequence.
 
 $

* 
ë  
 ((ʹ (%

A. 2)'

  


1. 2
a. Both DNA and RNA are polymers built of nucleotides.
b. Each nucleotide contains a sugar, a nitrogenous base
and a phosphate group.
c. The DNA͛s sugar is deoxyribose, and RNA contains a
ribose 5-carbon sugar.
d. Nitrogenous bases are either pyrimidines
(6-membered ring) or purines (two fused rings).
e. Purines in both DNA and RNA are adenine and guanine.
f. Pyrimidines in DNA are thymine and cytosine; in RNA they
are uracil and cytosine.
g. The DNA backbone is built of phosphoric acid and
deoxyribose.
h. The 5' end of the backbone has a free phosphate group on
the 5' carbon of the ribose and the 3' end has a free
hydroxyl group on the 3' carbon.
i. DNA is two complementary chains precisely cross-linked by
specific hydrogen bonding between purine and
pyrimidine bases.
j. The number of adenines is equal to thymines, and guanines
equal cytosines suggesting that these bases are paired.
k. The DNA ladder is twisted into a double helix; ten base
pairs occur per turn.
l. The two DNA strands are antiparallel; the 5' end of one is
bonded to the 3' end of the other.
m. Strands are complementary; sequence of bases of one
strand specifies the sequence of the other.
D 

à


ë
à
D


  


§   






  



D




ë


n. RNA is similar to DNA except it has a single polynucleotide
chain, has ribose instead of deoxyribose, and has uracil
instead of thymine.
o. DNA is replicated precisely in daughter cells; each strand is
a template for the new complementary strand.
p. Ribosomal, transfer, and messenger RNAs are the most
abundant and well-known types of RNA, but many
structural and regulatory RNAs, such as micro RNAs, have
been reported
 02)§ P!#ë  
 (-

a. The DNA coding sequence is collinear with the sequence of

amino acids in a protein.
b. Four bases cannot code for 20 amino acids if taken in 1:1
correlation.
c. Sequences of 3 bases provides 64 (43) combinations, enough
to code for the amino acids.
d. Later work confirmed the triplet codons with redundancy.
ë$P 
e. DNA is stable but subject to chemical and radiation damage.
f. 

uses enzymes to separate pyrimidines
covalently bonded by UV radiation.
g. 02)!
 synthesizes the missing strand according
to base-pairing rules.
02)  joins the end of the new strand to the old one.
i. DNA polymerase only synthesizes new strands in the
direction of 5' to 3'.
j. The parent DNA strands are antiparallel, so synthesis along
one of the strands is continuous, and the other is
performed in a series of fragments running 5' to 3'.
Replication of DNA
3. $

 6
 
62)ë  
 (. (&

a. DNA codes for proteins but does not participate directly

in protein synthesis
b. An intermediary,  
62) (mRNA) is used.
c. DNA is 

Pinto mRNA with uracil substituting
for thymine. ë$P 
d. 62)!
makes a complementary copy of one
strand of DNA to form mRNA.
e. A different RNA polymerase is used to produce ribosomal,
transfer and messenger RNA.
f. Only one of the two DNA strands, the º7
, is
used as a template for RNA synthesis. The strand not
used as a template is called the º7 strand.
g. Genes were thought to be continuous stretches of DNA
until introns, sections that do not code for a product,
were discovered.
h. Genes coding for many proteins may be discontinuous;
genes coding for histones and interferon are continuous.
i. Some genes are rearranged during development to code
for different proteins.
j. Some RNA can self-catalyze the excision of introns;
since it changes in the reaction, this is not technically
an enzyme.
4. $
' Final Stage in Information Transfer ë  
 0ʹ 

a. Translation takes place on ribosomes composed of protein

and ribosomal RNA (rRNA).
b. Ribosomal RNA has a large and small subunit; together
they form a functional unit.
c. The mRNA attaches to ribosomesʹoften many in a rowʹ
to form a complex called a polyribosome or polysome.
d. Several molecules of the same protein can then be
synthesized at once, one per ribosome.
e. Assembly of proteins requires large transfer RNA molecules.
f. The tRNA collects free amino acids and delivers them
to the polysome.
g. There is a unique tRNA for each amino acid.
h. Each tRNA has a specific tRNA synthetase to sort and attach
amino acid to the end of each tRNA, called  
 .
i. On the tRNA, a sequence of three bases (anticodon) forms
base pairs with complementary bases (codon) in mRNA.
j. The anticodon of tRNA correctly sequences the amino acids
to build the protein.
 6 *
ë  
 

a. As tissues differentiate, they use only certain sections of

genetic material.
b. Most genes are inactive at any one time; therefore timing is
critical to normal function.
 $

§

1) Transcription factors are molecules that have a positive or
negative effect on transcription of RNA from DNA.
2) Steroid hormones enter the cell and bind with a receptor
protein in the nucleus; this complex binds with DNA near
the target gene.
3) Progesterone binds with a nuclear receptor in oviduct cells;
this activates transcription of genes encoding egg albumin.
d. $
§

1) Genes are transcribed but mRNA is sequestered so
translation is delayed.
2) Egg development is often held back; large amounts of
messenger RNA accumulate until fertilization activates
metabolism and translation of maternal mRNA.
e. *6

 
1) Rearrangement of DNA sequences coding for antibodies,
which allows for vast diversity.
f. 02)

1) Methylation of cytosine residues turns genes off.
2) This occurs when cytosine is next to a guanine residue;
when DNA is replicated, an enzyme recognizes the CG
sequence and methylates the daughter strand.


*

1. 6P02)ë  
 

a. Restriction endonucleases are enzymes derived from bacteria.
b. They cleave double-stranded DNA at particular sites,
leaving ͞sticky ends.͟
c. Combined with others, they join by rules of complementary
base pairing.
d. They are sealed together by DNA ligase.
e. If the joined DNA is from different sources, this constitutes

P02).
f. Plasmids and bacteriophages that carry recombinant
DNA are


2. "!
§ 6ë  
 

a. If a gene sequence is known, it can be cloned using

polymerase chain reaction.
b. Short chains of nucleotides called primers, complementary
to the sequence, are synthesized.
c. Added to the DNA, the mixture is heated to separate the
DNA, and cooled.
d. DNA polymerase and the four deoxyribonucleotide
triphosphates are added; DNA synthesis proceeds from
the 3' end of each primer.
e. Entire strands are synthesized as the heat-cool cycle is
repeated.
f. At five minutes per cycle, less than 2 hours is needed to
yield a million copies of one strand.
Steps in the Polymerase
Chain reaction
 *"


a. Mapping, sequencing and analyzing genomes is genomics.

b. The task of mapping the human genome, originally expected
to take until the year 2700, is now complete.
c. Mapping is completed or nearly completed on many
organisms such as bacteria, yeast, fruit flies and nematodes.
d. The human genome is much smaller than previously thought,
now estimated at about 40,000 protein-encoding genes.
e. There are about 740 gene codes for RNAs; about 90% of
sequences in euchromatin (gene-rich portions of
chromosomes,contrasted with heterochromatin,
areas where there are few genes).
f. Only about 5% of the 28% actually transcribed into
RNA encoded protein.
g. More than half the DNA present is repeated; sequences of
several types, including 45% in parasitic DNA elements
(͞junk͟ or ͞selfish͟ DNA)ͶDNA that seems to serve no
function save its own propagation.
h. Nearly 1000 human diseases, such as cystic fibrosis and
Huntington͛s chorea, result from defects in single genes.
i. Almost 300 disease-associated genes have already been
identified.
j. The human genome of some 40,000 genes is responsible for
hundreds of thousands of different proteins.
k. A single gene can, by some means, give rise to many differing
proteins.
L. Scientists in the field of 
 are trying to determine how
proteins interact to accomplish their functions, and to outline
the folding structure of proteins.
C. 
" !8

1. There are several sources of variation.
a. Independent assortment of chromosomes, crossing over
and random fusion of gametes reshuffle and amplify the
genetic material present.
b. Gene mutations and chromosomal aberrations provide
new genetic variation.
2. *

a. Chemical or physical changes in genes result in alteration
of the sequence of bases in DNA.
b. A codon substitution results in incorrect amino acids
causing sickle cell anemia.
c. Once a gene is mutated, it faithfully reproduces itself.
d. The environment imposes a screening process (natural
selection) that continues the beneficial and eliminates the
harmful.
e. A population carries a reservoir of mutations unexpressed in
heterozygotes

#!

a. A long gene is more likely to have a mutation than a short gene.
b. Every person carries approximately one new mutation;
most are recessive and not expressed.

 

*§

 /  $


*
1.Cancer is a result of a series of specific genetic changes
that take place in a particular clone of cells.
2. These changes may include alterations of  
and 


 
3. Normally, oncogenes are in the form of 
+ 
4. One proto-oncogene code for the protein 6
(a guanosine triphosphataseͶGTP-aseͶ is located just
beneath the cell membrane).
5. When a receptor on the cell surface binds a growth factor, Ras
is activated and initiates a cascade of reactions, ultimately
leading to cell division.
6. Cellular DNA can sustain damage largely by ionizing
radiation, ultraviolet radiation, and chemical mutagens,
all of which may result in 

 



7. Some damaged DNA can be repaired.
8. Gene products such as p53 (for ͞53-kilodalton protein͟)
are tumor suppressors that act on cell proliferation.