Chapter 13: Patterns of Inheritance
Genes
and Chromosomes
I. 13.1 Heredity and Environment
a. Affects of the environment on heredity
i. Ex. Siamese cats
1. Siamese cats inherit genes for enzymes that produce a dark pigment in their fur. The pigment producing enzyme works best at cool temperatures thus their legs, tails and ears darken when the cat is let out into the cool outdoors. Their fur color could change from dark to light if a body part was kept warm (inside all the time), and vice versa.
ii. Ex. Twins
1. Identical twins develop when a zygote splits and forms two complete embryos with the exact same genetic information.
2.
Fraternal twins develop from separate eggs
and sperm
cells and don't have the exact same genetic information (two were
released during that menstrual cycle rather than the usual one).
3. If identical twins have more of the same trait than fraternal twins, then the trait's influenced by genetics. If the trait is different in the identical twins, then the trait's influenced by the environment.
b.
Theory of Blending [old and outdated,
little supporting data]
i. Genetic makeup of someone is formed by their parents’ traits getting mixed (blended) during fertilization.
ii. After the blending, traits couldn't be passed down separately to the next generation.
iii.
This theory is no longer included in
genetics because traits are not blended, even though many children have
intermediate
traits
of their parents. Those that appear to be blended are really polygenic traits (coded for by many
different genes).
http://gslc.genetics.utah.edu/
II. 13.2 Mendel and the Idea of Alleles
a.
Mendel’s experiments with peas
i.
Mendel decided to study traits that didn't
fit into the
blending theory.
1. Smooth vs. wrinkled
2. Tall vs. short
3. Green pods vs. yellow pods etc….
ii.
Mendel used true-breeding peas to
produce
offspring that were identical to themselves for many generations.
[round seeded peas bred together always produce round seeds].
iii.
Mendel crossbred all the pea plants and
classified the
offspring. Found 3:1 ratios in his F2 generations for many traits.
1. Yellow x Green = greenish yellow? Both green and yellow? Results showed both green and yellow pods in the next generations, not blending.
X 
Cross-fertilization
↓
All green-podded
↓ self
fertilization
ratio: 3 green podded: 1
yellow podded
b. Genetic theories today
i.
One gene codes for 1 protein or trait
ii. Ex. Human alleles
1. widow's peak
2. hair/skin color
3.
nose shape
http://anthro.palomar.edu/mendel/mendel_1.htm
III. 13.3 Genes and Chromosomes
a. Arrangement of genes in Eukaryotes
i. Coding DNA
1.
Long molecules of DNA that are wrapped
around proteins (complex molecules called chromosomes).
2.
Only 1% of DNA is expressed in a
protein.
ii.
Non-Coding DNA
1. Introns
2. Is not translated
3.
Consists of short sequences of bases that
are repeated
thousands of times.
b. Arrangement of genes in Prokaryotes
i. Coding DNA
1. Bacteria (Monera, Prokaryotic) have 1 chromosome that is usually circular, and is associated with only a small amount of protein.
2. Donut have introns.
ii. Non-Coding DNA
1. 90% of DNA in prokaryotes is translated.
c. Plasmids
i. Small circles of DNA in bacteria that contain additional genes.
ii. Move from 1 bacterium to another
iii.
Genetic engineers use them to introduce
genetic
material into bacteria cells. Called: genetic engineering.
iv. Carry genes that provide resistance to antibiotics.
d.
Homologous structures vs. other chromosomes
i.
Homologous chromosomes carry the same
genes, but may be present as
different
alleles. For example, brown eyed people can pass on the recessive
blue eyed gene they carry to their offspring.
ii. Size of a chromosome and the position of its centriole.
1. Stains can help by binding to specific regions of chromosomes, providing a pattern that is specific to each of an organism's chromosomes.
e. Studying chromosomes during cell division
i. Chemicals are added to a cell to stop cell division during metaphase.
ii. Cells are placed on slides and treated with water so that they swell, and their chromosomes spread apart.
iii. Stains help produce the banding patterns that are used to study the chromosome.
Biological Challenges
This project involves thousands of different scientists and technicians, and has cost over $1 billion. This project has determined the sequence of the pairs of DNA in the human genome. The human genome consists of 23 numbered pairs of chromosomes (46 total chromosomes). Bioinformatics is the method of analyzing the vast amount of sequence data generated by the HGP.
I. 13.4 Probability and Genetics
a. What is probability?
i. Method of predicting the chances of how (if) an event will occur.
1. Geneticists use it to predict the results of mating.
ii. Ex. What's the chance of a tossed coin to land on heads? 1 out of 2, ½ or 50%..
Ex. What's the chance of you drawing an ace out of a deck of cards? 4 out of 52, or 1/13.
b. Using Probability
i. Genetics uses probability to predict the alleles of the offspring of various crosses.
ii. These outcomes are used for comparison with the results of breeding experiments.
iii.
Genetic ratios are just estimates of
probability of an event.
http://staff.jccc.net/pdecell/transgenetics/probability.html
II. 13.5 Inheritance of Alleles
a. Monohybrid cross
i. Mendel crossed plants that had different pod color. He crossed true-breeding, green-podded plants with yellow-podded plants. The plants in this1st cross are called the parental generation (P).
ii.
Plants that grew from the parental
generation are
called the first filial (F1) generation. All were green!
iii. F1 generations then self-fertilized, and were called the second filial generation (F2). 428 plants were green-podded, and 152 plants were yellow-podded. This was a 3:1 ratio.
True Breeding
Parental generation
(P) GG
X
gg
↓
↓
meiosis and gamete formation
gametes
G
g
↓
↓
meiosis and gamete formation
↓
↓
↓
gametes ½ G ½ g
↓
↓
G
g
GG
Gg G
Self-fertilization
Gg
gg
g
iv. Dominant Traits
1.
The trait that will show up in the F1
generation will show when present.
v. Recessive Traits
1.
The trait that doesn't show up in the F1
generation was "covered" by the dominant allele.
vi. Principle of Segregation
1. Gametes form during meiosis and only 1 copy of the factor (green color of pod) is transferred to each pollen or egg cell.
2. After fertilization, the F1 generation had a green-podded factor (allele) from 1 parent and a yellow-podded factor from the other parent. One of these factors is passed into each gamete formed by the F1 plants.
vii.
Homozygous
genotype - Both alleles are the
same (GG or
gg).
Heterozygous genotype - Alleles
are different (Gg).
Phenotype - The observable
characteristics. [the way the creature looks, genotype + the
effects of the environment].
b. Dihybrid cross
i. This is a cross between individuals that differ in 2 traits.
ii. Mendel found that the traits of round seeds and yellow embryos are dominant over wrinkled seeds and green embryos.
c. Mendel’s Principle of Independent Assortment
i. Alleles for 1 characteristic divide up between the gametes during meiosis independently of alleles for other characteristics.
The
Chromosome Theory of Inheritance
Mendel
concluded that although egg and sperm cells (or egg/pollen cells) are
different and they make
equal
genetic contributions to the new organism.
Sperm and egg cells are both very similar in structure, but are
in
different locations. After many
observations of meiosis, it was determined that homologous chromosomes
segregate among the gametes like Mendel’s results concluded.
(Mendel did not live to see his pea experiments supported by other
research....).
http://anthro.palomar.edu/mendel/mendel_3.htm
III. 13.6 Sex Determination
a.
Sex
chromosomes in humans are labeled X and
Y and are the 23rd pair. [the other 22 pairs are called autosomal chromosomes]
i. Females have 2 X chromosomes, so all haploid eggs produced during meiosis have one X chromosome.
ii.
Males have 1 X and 1 Y chromosome, so
½ of the sperm
have an X chromosome, and the other ½ have a Y chromosome. The sperm will determine the sex of the
offspring of 2 parents. XX = female,
XY = male, in humans.
iii. An egg that's fertilized by a sperm with an X chromosome will become a female; an egg fertilized by a sperm with a Y chromosome will become a male.
b. Sex determination in some insects
i. Females have 2 X chromosomes, and males have 1. There is no Y chromosome.
c. Sex determination in birds, fish, and some insects (Z-W system)
i.
Males have 2 matching chromosomes (ZZ), and
the female
has 1 Z chromosome, and 1 W chromosome.
http://www.people.virginia.edu/~rjh9u/sexdet.html
Other Patterns of Inheritance
I. 13.7 Multiple Alleles and Alleles without Dominance
a. Incomplete Dominance
i. Ex. Red-flowered snapdragons are crossed with white-flowered snapdragons.
1.
All flowers in the F1 generation have pink
flowers which looks like blending, but it's not. Each allele is
equally expressed- equal amounts of white and red pigment look
pink....
ii. Ex. Blood Type in Humans
1. Blood type depends on the presence or absence of type A or B carbohydrates on the surface of red blood cells. The alleles are labeled IA or IB.
2. When someone has type IAIB blood, then both carbohydrates are produced and the blood type is AB. These alleles are called codominant.
3.
Multiple
Alleles (more than 2 alleles within the populations gene pool).
a. i allele type is code for no active enzyme, no A or B types. An ii genotype produces type O blood.
b.
IA, IB, and i (the 3 human alleles for
blood type) are used to show that A and B
traits are
codominant, and O is recessive.
AA = A
AB = AB
Ai = A
BB = B
Bi = B
ii = O (most common in humans)
4.
When type A blood receives a transfusion of
type B
blood the red cells will clump together and clog the blood vessels (an
immune system response to the foreign B carbohydrate on the surface of
the transfused blood). Antibodies are
defensive proteins found in
the blood and will bind to foreign substances in the blood. They are important in defending against
infection in the blood stream.
http://www.borg.com/~lubehawk/multalle.htm
II. 13.8 Linked Genes
a. Genes that are on the same chromosome are said to be linked. They are often inherited together and most of the traits Mendel studied weren't linked genes.
b.
Not all linked genes stay together. Homologous structures will exchange pieces
during their crossing over,
which produces a new allele combination.
These greatly increase variation, and thus help EBNS.
c.
The frequency of linked traits becoming
separated will
reflect on how far apart on the chromosome the genes will be. This is used to map out the location of genes
on chromosomes.
d. Close together = tightly linked
Far apart = loosely linked
<> http://biology.clc.uc.edu/courses/bio105/sex-link.htmIII. 13.9 X-Linked Traits
a. X-Linked traits are traits whose genes are carried only on the X chromosome.
b. In the 1910’s, Thomas Hunt Morgan and his students found a white-eyed male fly. They mated this fly with a normal red-eyed female fly, and all the offspring ended up with red eyes. This experiment determined that the white-eye trait is recessive, and more likely to occur in males.
c. When Morgan’s students found a white-eyed female, they crossed it with a red-eyed male, and the female offspring had only red eyes; the males only white eyes.
d.
These results showed that the gene for eye
color is
only carried on the X chromosome, not the Y.
http://www.stat.washington.edu/thompson/Genetics/4.1_xlinked.html
IV. 13.10 Nondisjunction
a. Nondisjunction is the failure of homologous chromosomes to separate in meiosis.
b. The recessive eye-color trait is known as vermilion. When vermilion-eyed females were crossed with normal red-eyed males, about once every 2,000 flies a vermilion-eyed female or a red-eyed male appeared in the F1 generation.
c. The females in the F1 generation must have 2 X chromosomes that are carrying the recessive allele. These flies must have developed from gametes that were produced by abnormal meiosis. The offspring of a gamete with 2 sex chromosomes that failed to separate in meiosis, would have an unusual number of sex chromosomes.
d. Nondisjunction can occur in humans and the effects can be quite severe.
i.
Ex. Turner syndrome (XO) [the "O"
meaning no chromosome at all]
1. Someone with only 1 X chromosome and no Y chromosome are usually short, sexually undeveloped females.
ii. Females with XXX genotype will have limited fertility and may be slightly mentally disabled.
iii.
Ex. Klinefelter syndrome (XXY)
1. Males with an XXY chromosome are tall, sexually underdeveloped, and may be slightly mentally disabled.
iv. Trisomy-21 (Down syndrome)
1. An individual receives 3 copies of the 21st chromosome. This disrupts development and causes limited mental abilities, shortness, characteristic facial features, and heart defects.
2. Some individuals with Down syndrome are severely retarded, and others only mildly. About 95% of those with the disease will reach adulthood. 80% of those that reach it will live into their early 50’s.
3.
Down syndrome is the most common serious
birth defect
in the
http://ghs.gresham.k12.or.us/science/ps/sci/ibbio/genetics/notes/meiosis/nondisjunction.htm
V.
13.11 Multigene
Traits (polygenic traits)
a. Multifactorial traits are affected by several genes and environmental factors.
i. Height is considered a quantitative trait (Multifactorial trait). The environment includes external factors (light and temperature) as well as internal, such as an organism's metabolic activities.
ii.
Ex. The production of the skin pigment
melanin is
controlled by 4 major genes which demonstrate simple dominance.
How each of these 4 major gene pairs function determines that persons
skin color.