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HEREDITY

SEX CHROMOSOMES AND


SEX-LINKED INHERITANCE
X-linked Inheritance in Fruit Fly (Drosophila Melanogaster)

Eye color gene is on the X chromosome in fruit flies, therefore it is


NOT autosomal linked.

Red eyed: XRXR (female), XRY (male).

White eyed: XrXr (female), XrY (male).


Female Male

XR XR Xr Y

Sperm

Xr Y

Eggs XR XR Xr XR Y

R = red-eye allele
r = white-eye allele
Female Male

XR Xr XR Y

Sperm

XR Y

XR XR XR XR Y

Eggs

Xr Xr XR Xr Y
Female Male

XR Xr Xr Y

Sperm

Xr Y

XR X RX r XR Y

Eggs

Xr Xr Xr Xr Y
Connection: sex-linked disorders affect mostly males

▪ Males express X-linked disorders such as the following


when recessive alleles are present in one copy.
• Hemophilia
• Colorblindness (Daltonism)
HEMOPHILIA
Hemophilia In Royal Family of Russia

Queen Alber
Victoria t

Alice Louis

Alexandra Czar
Nicholas II
of Russia

Alexis
COLORBLINDNESS
EXAMPLE
A man with hemophilia (a recessive , sex-linked
condition) has a daughter of normal phenotype.
She marries a man who is normal for the trait.
• What is the probability that a daughter of this mating will
be a hemophiliac?
• A son?
• If the couple has four sons, what is the probability that all
four will be born with hemophilia?
ANSWER

• A. If the daughter marries a normal male the probability of


a daughter having hemophilia is zero.
• B. About 50% of male children would have hemophilia
• C. The probability that all 4 sons have inherited
hemophilia would be: 1/2 x 1/2 x 1/2 x 1/2 or 1/16.
EXAMPLE

• Red-green color blindness is caused by a sex-linked


recessive allele. A color-blind man marries a woman with
normal vision whose father was color-blind.
(a) What is the probability that they will have a color-blind
daughter?
(b) What is the probability that their first son will be
color-blind?
(Note: the two questions are worded a bit differently.)
ANSWER

a. Probability of having a color blind daughter


is (1/2 x 1/2) or 1/4 or 25% (0.25) This is because
both sex and colorblindness are involved in the
solution.
b. The probability that their first son is color blind
is 50% (0.50). In this question only males are part
of the solution.
Y-LINKED INHERITANCE

Hairy Ears

The disorder is passing from father


to son directly.
SEX LINKED DOMINANT INHERITANCE
• Sex-linked dominant Unaffected
female
Affected male

inheritance is rarer because


all daughters of affected
males will be affected (the
heterozygous condition is
not a carrier).

• Sex-linked dominant traits


are never passed from
father to son.

• Affected females produce


50% normal and 50%
affected offspring.
Pedigree
• Shows the inheritance of a trait in a family through
multiple generations
• Demonstrates dominant or recessive inheritance
• Can also be used to deduce genotypes of family members
First generation
(grandparents) Ff Ff ff Ff

Second
generation
(parents, aunts, FF ff ff Ff Ff ff
and uncles) or
Ff
Third generation
(two sisters)

ff FF
or
Female Male Ff
Affected
Unaffected
Many Inherited Disorders In Humans Are
Controlled By A Single Gene
▪ Inherited human disorders show
• Recessive inheritance

– Two recessive alleles are needed to show disease


– Heterozygous parents are carriers of the
disease-causing allele
– Probability of inheritance increases with inbreeding,
mating between close relatives
• Dominant inheritance

– One dominant allele is needed to show disease


– Dominant lethal alleles are usually eliminated from
the population
Accidents During Meiosis Can Alter Chromosome
Number
– Nondisjunction is the failure of chromosomes or
chromatids to separate during meiosis
• During Meiosis I
– Both members of a homologous pair go to one
pole
• During Meiosis II
– Both sister chromatids go to one pole
– Fertilization after nondisjunction yields zygotes with
altered numbers of chromosomes

Copyright © 2009 Pearson Education, Inc.


Nondisjunction
in meiosis I

Normal
meiosis II

Gametes

n+1 n+1 n–1 n–1

Number of chromosomes
Normal
meiosis I

Nondisjunction
in meiosis II

Gametes

n+1 n–1 n n

Number of chromosomes
Risks of Consanguineous Marriages
DOWN SYNDROME
Technology
And
Genetic testing

Fetal testing
1. Amniocentesis
Newborn
Carrier 2. Chorionic villus
screening
Recognition sampling (CVS)
3. Ultrasound
4. Fetoscopy
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• Biological diversity: The diversity of the interaction between living organisms in a
specific area.
• Variation: Any difference between cells or groups of organisms of any species,
caused either by genetic differences or by the effect of environmental factors on the
expression of genetic potentials.
• Genetic variation: The presence of differences in DNA between individual
organisms of a species.

MAKE A RESEARCH:
• What factors cause genetic variation among living organisms?
• How do those factors contribute biological diversity?
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• The ability of a population (same species of organisms) to adapt itself
to external conditions and to survive, is an indicator of the extent its
members having genetic variation.
• The genetic variation causes a variety of responses against external
factors in a specific area.
• Thus, groups of organisms that can adapt themselves to changing
external environment can easily survive and reproduce; maintain their
generations.
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY

• Immigrations
between organisms
living in different
geographical regions
increases genetic
variation.
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• Mutation is the permanent changes occur in the DNA or RNA
sequence in the genome of an organism.
• Most of the time, mutations are either harmful or ineffective/neutral
for the living organisms.

If harmful, the organism may even die because If neutral, then, the organism can
of the changes in its genome, thus cannot reproduce, maintain its generations and
transfer its new genes to its offsprings. transfer the new genes to its offsprings.
(In case the mutation restrains the organism’s
survival chance and/or reproduction ability)
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• Mutagen: Any factor that causes mutation.
Examples for mutagens;
*Radiation
*UV light, beta, gamma, X-rays
*Some chemicals such as formaldehyde, nitric acid
*Some drugs
*pH and heat changes
*Some viruses
EXAMPLES OF MUTATION IN
PLANTS

Avocado Mandarin Cara cara orange leaves


GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• Recombination: The change in the gene sequence because of many
factors (independent assortment, crossing over, mutation etc.).
GENETIC VARIATIONS AND
BIOLOGICAL DIVERSITY
• Modification: A change in a living organism acquired from its own
activity or environment and not transmitted to its descendants.
Examples; *primroses (Çuha çiçeği) blooming in different colors under
different temperatures
*humans suntanning/change of the skin color
* some flowers blooming in different colors in different soil
pH levels
LINKED GENES
• Linked genes are genes that are likely to be inherited together
because they are physically close to one another on the
same chromosome.
LINKED GENES VS UNLINKED GENES
LINKED GENES VS UNLINKED
GENES
LINKED GENES VS UNLINKED
GENES

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