Genetics Unit Test Review

DNA Molecule

DNA: A double helix structure that stores hereditary information making the genetic code of
living organisms. Made of Deoxyribose (sugar), phosphate, and four nitrogenous bases.
These three items are bound together to form a nucleotide.

Nucleotide: The individual units of each strand of DNA.

Composed of a phosphate group, a sugar group, and a
base.

The four bases in DNA are adenine (A), guanine (G), thymine
(T), and cytosine (C).

A and T and C and G are complimentary base pairs

Purines = A + G
Pyrimidines = C + T

Comparing Meiosis and Mitosis

Mitosis Same Meiosis

End result is 2 daughter cells
Somatic cells undergo this
process
Creates body cells (liver, skin,
blood, muscle)
Purpose is for growth, repair and
reproduction
Results with same # of
chromosomes as parent cell (46)
Creates 2 diploid daughter cells
6 Stages (One division)
Daughter cells are genetically
identical to parent cells
DNA Replications End result is 4 daughter cells
occurs only once during
interphase
Creates new cells – Germ cells undergo this process
daughter cells
Occurs in plants and Creates sex cells/gametes (sperm,
animals eggs)
Starts from one diploid Purpose is for reproduction
cell
Result with half # of chromosomes
as parent cell (23)
1 diploid cell produces 4 haploid
cells
10 stages (Two divisions)
Crossing over occurs, making
daughter cells NOT genetically
identical to parental cells

The key difference is that the cells in Meiosis become haploid instead of diploid. As well,
meiosis results in genetic variation and allows for genetic diversity within a population.
Definitions:

Gene: a piece of DNA that encodes a particular trait e.g. gene for eye colour
 Alleles: Alternate form of a gene e.g. alleles for blue eyes and alleles for brown eyes
 Phenotype: The physical expression a gene or allele e.g. blue eyes
 Genotype: The genetic composition of an individual. e.g. AaBb
 Dominant allele: expressed whether alone or in pairs. Symbolized with a capital letter
 Recessive allele: expressed only in the absence of a dominant allele. Symbolized
with a lowercase letter
 Homozygous: containing a pair of the same alleles
o Homozygous dominant: two dominant alleles e.g. BB
o Homozygous recessive: two recessive alleles e.g. bb

 Heterozygous: containing two different alleles e.g. Bb

 Autosomal inheritance: the inheritance of traits whose genes are found on the
autosomes—that is, chromosomes 1 to 22 in humans.

Autosomal Dominant Disorder: occurs when the disease-causing allele is dominant, and an
individual has one or both copies of the allele.

 Affected children will have at least one affected parent

 Two affected parents can produce an unaffected child. Two unaffected will NOT
have an affected child.

Key:
o AA = Affected
o Aa = Affected
o aa = normal

Diseases:

 Neurofibromatosis (chromosome 17)

 Huntington Disease (chromosome 4)

Autosomal Recessive Disorder: occurs when the disease-causing allele is recessive, and an
individual has both copies of the allele. Affected children can have unaffected parents.

Key:
o aa = affected
o Aa = carrier (unaffected)
o AA = normal

Diseases:

 Tay-Sachs disease,
 cystic fibrosis,
 sickle cell anemia
Sex linked traits: Traits that are controlled by genes on either the X or Y chromosome

o X Linked Dominant: In females (who have two X chromosomes), a

mutation in one of the two copies of the gene in each cell is sufficient to
cause the disorder. In males (who have only one X chromosome), a
mutation in the only copy of the gene in each cell causes the disorder. In
most cases, males experience more severe symptoms of the disorder than
females. Affected males will always pass on the genetic disorder to a
female who will be affected. A female can pass the disorder equally to
either the male/female offspring. A characteristic of X-linked inheritance is
that fathers cannot pass X-linked traits to their sons.

o X linked recessive: most X-linked traits are recessive. Males only require
one allele to be affected and the female requires 2 alleles. Because it is
unlikely that females will have two altered copies of this gene, males are
affected by X-linked recessive disorders much more frequently than
females. A characteristic of X-linked inheritance is that fathers cannot
pass X-linked traits to their sons.

o Y Linked: if the mutated gene that causes the disorder is located on the Y
chromosome, one of the two sex chromosomes in each of a male's cells.
Because only males have a Y chromosome, in Y-linked inheritance, a
mutation can only be passed from father to son.

Morgan studied the fruit fly. While studying he discovered a white eyed male fruit fly. He
crossed the white eyed made with a red eyed female. The F1 generation was all red eyed.
It seemed to indicate the red eye was dominant and white eye was a mutation. Then,
Morgan crossed a male from the F1 generation with a female from the same generation.
 All the females of the F2 generation had red eyes, half the F2 males had red
eyes, and half the F2 males had white eyes.
 The discovery that the gene for eye colour was connected to gender led
Morgan to conclude that the gene for eye colour is located on the X
chromosome.
 The gene for eye colour must be controlled by the sex chromosomes, therefore
this gene is known as a sex-linked trait.
Sex-linked Genes

 The X and Y chromosomes in humans have only a few genes in common. The human
X chromosome is estimated to contain about 2000 genes, while the Y chromosome
contains fewer than 100.

Law of Segregation

 This law states that inherited traits are determined by two alleles of a gene. These
two alleles segregate into each of the gametes of the parents during meiosis, so that
each gamete contains one of the alleles. Upon fertilization, each offspring contains
one allele from each parent. The form of trait that is expressed in an individual
depends on whether they inherit dominant or recessive alleles for the trait. If a
dominant allele is present, only the dominant form of the trait will be expressed.
Expression of the recessive form requires that an individual has two recessive alleles
for the trait.

Independent Assortment:

 Genes located on separate chromosomes are inherited independently of one

another. Separate genes for separate traits are passed independently of one
another from parents to offspring. Depending on how the chromosomes line up, a
number of different combinations of chromosomes may be found in the gametes.
Ratio is often 9:3:3:1

Crossing Over:
 Occurs during prophase I. Segments of paternal/maternal chromatids exchange
during Meiosis I. A section of chromosome that is crossed over may contain hundreds
or even thousands of genes. This process dramatically increases the genetic diversity
of the gametes produced.

Human Karyotyping:

 Karyotyping is one method for testing individuals who are at risk of developing
genetic disorders, or of passing these disorders on to their offspring. It can be used to
identify some chromosomal abnormalities, such as extra or missing chromosomes,
and abnormal banding patterns. Once geneticists are able to identify the
chromosome and eventually the gene responsible for a disorder, more detailed
analyses are possible.
Errors to chromosome structure include:

o Deletion: a piece of a chromosome is deleted (Cri du Chat)

o Duplication: a section of a chromosome appears two or more times in a row
(Charcot-Marie-Tooth Disease)
o Inversion: a section of a chromosome is inverted (FG Syndrome)
o Translocation: a segment of one chromosome becomes attached to a
different chromosome (CML – Leukemia)
Non disjunction: Sometimes homologous chromosome pairs or sister chromatids do not
separate as they should during meiosis. Non-disjunction can occur in anaphase I or II of
meiosis. In anaphase I, non-disjunction occurs when homologous chromosome pairs do not
separate to opposite poles. Instead, one entire pair is pulled toward the same pole. In
anaphase II, non-disjunction occurs when sister chromatids do not separate to opposite
poles. Instead, both sister chromatids are pulled toward the same pole. As a result, non-
disjunction produces gametes that have too few or too many chromosomes.

 The condition in which one chromosome is lost

due to non-disjunction is called monosomy.

 The condition in which there is a gain of an extra

chromosome due to non-disjunction is called
trisomy. The most common trisomies are found in
chromosomes 21, 18, and 13, and in abnormalities
in the number of sex chromosomes.

Multiple Alleles
Many traits in humans and other species are the result of the interaction of more than two
alleles for one gene. Occurs when there are more than two possible alleles for a given
gene. (Each individual inherits only two alleles for these genes) Results in a larger number of
possible genotypic combinations and a greater variety of phenotypes.

 E.g. Human Blood Groups, there are three possible alleles: IA, IB,and i. The different
combinations of the three alleles produce four different phenotypes, which are
commonly called blood types A (IAIA homozygotes or IAi heterozygotes), B (IBIB
homozygotes orIBi heterozygotes), AB (IAIB heterozygotes), and O (ii homozygotes)
 Rabbit Coat Colour: The gene that controls coat colour in rabbits has four alleles:
agouti (C ), chinchilla (cch), Himalayan (ch), and albino (c).

Polygenic Trait:

Traits that exhibit continuous variation are usually controlled by more than one gene. For
some traits this can involve several genes. Traits that are controlled by many genes are
called polygenic traits. For skin colour, the more dominant alleles a person has, the darker
their skin.

Heterozygous Advantage:

Describes a situation in which heterozygous individuals have an advantage over both

homozygous dominant and homozygous recessive individuals. E.g. the sickle cell trait can
be an advantage, because these heterozygotes are more resistant to malaria.
Patterns of Inheritance:

Some patterns result in phenotypes that are between dominant and recessive phenotypes.
Other patterns result in phenotypes that are created when both alleles for a trait are equally
expressed.

 Incomplete dominance describes a condition in which neither of the two alleles

for the same gene can completely conceal the presence of the other. As a
result, a heterozygote exhibits a phenotype that is somewhere between a
dominant phenotype and a recessive phenotype. (BLEND)
 Phenotypic Ratio: 1:2:1 (red:pink:white)
 Neither allele is dominant over the other

 Co-Dominance: is a situation in which both alleles are fully expressed. A roan

animal is an excellent, visible example of codominance. A roan animal is a
heterozygote in which both the base colour and white are fully expressed. For
example, If you look closely at the individual hairs on a roan animal, you will see
a mixture of red hairs and white hairs. One allele is expressed in the white hairs,
and the other allele is expressed in the red hairs.
 One allele does not mask the other. Both traits are expressed
 Disease: Sickle cell anemia: caused by a specific form of the gene that directs
the synthesis of hemoglobin. The hemoglobin molecule that is made in individuals
with the sickle cell allele leads to a C-shaped (or sickled) red blood cell. These
misshaped red blood cells do not transport oxygen effectively because they
cannot pass through small blood vessels. This leads to blockages and tissue
damage. Individuals who are homozygous (HbSHbS) have sickle cell anemia.
Individuals who are heterozygous (HbAHbS) have some normal and some sickled
red blood cells

Barr Bodies: The inactive X chromosome is condensed tightly into a structure known as a
Barr body. Every cell has only one functioning X chromosome. (In every female cell, one of
the X chromosomes is inactive) Which X chromosome is deactivated can vary among cells.

 E.g. One visible effect of one X chromosome being inactive is the calico, or tortoise
shell, coat colour in cats. In heterozygous females 50% of cells have an active X
chromosome with the allele for black coat and 50% have an active X with the allele
for orange coat.

Complete Dominance: is a form of dominance in heterozygous condition where the allele

that is regarded as dominant completely masks the effect of the allele that is recessive.
Monohybrid Cross: only one trait is monitored in the cross and hybrid plants

Phenotype: purple and yellow

Genotypic ratio: 1:2:1
Phenotypic ratio: 3:1

Dihybrid Cross: a type of cross that involves 2 genes, each consisting of non-identical alleles

Phenotypes:
9: Yellow round,
3: Yellow Wrinkled,
3: Green Round,
1: Green Wrinkled

Genotypes:
9: Y_R_
3: yyR_
3: Y_rr
1: yyrr

Probability: #/16 x 100

Genotypes:

Type A: IAIA or IAi

Type B: IBIB or IBi

Type AB: IAIB

Type O: ii
X Linked Recessive Disorders:

Colour Vision Deficiency: An X-linked Recessive Trait

 In humans, there are inherited forms of colour vision deficiency (CVD).

Individuals affected by CVD have varying degrees of difficulty
distinguishing between different colours or shades of colours. One form,
called red-green CVD, is an X-linked recessive disorder. Individuals with red-
green CVD have difficulty distinguishing between shades of red and green.
To track the inheritance patterns of sex-linked traits in humans, pedigrees
are often used.

Hemophilia: A Common Sex-linked Trait in Humans

 Hemophilia is a condition that affects the body’s ability to

produce proteins involved in blood clotting. People with
hemophilia can suffer serious blood loss from simple cuts and
bruises. Hemophilia is an X-linked recessive trait that affects more
than 3000 individuals in Canada.

Co-Dominance Incomplete Dominance

Potential risks and benefits of modern genetic technology:

Pros
 Prevent disease/illness
 Personalized medicine
 Ability to discover new diseases
causing illness/gene mutation
 Ability to determine the origin and
evolution of human race
 Influence to change lifestyle
Cons
 Insurance companies discriminate
against you
 Loss/gain of job status/career
 Legality in owning information
 Mental stress of knowing diseases
 Prenatal testing selects traits