2 Genetics

T. Boveri and W.
Sutton theory - the

genes must be located in chromosomes.
Since 1910, the experiments of T.

Morgan's group begin.
With his students Morgan started
working on the fruit fly Drosophila
melanogaster.
It was Morgan who introduced this small Sex linked inheritance of the
fly as an object into genetic research. white eyed mutation.
1
Expected Mendelian Ratios versus Morgan's Actual Results
Outcome
Cross
Expected Phenotypes Observed Phenotypes
P1 Red ♀ × P1 White ♂ F1 = All Red F1 = All Red*
50% Red ♀
75% Red ♀ and ♂
F1 Red ♀ × F1 Red ♂ 25% Red ♂
25% White ♀ and ♂
25% White ♂
*Morgan did observe 3 white-eyed males in the F1 generation. 2

(1) some traits were sex-
linked,
(2) the trait was probably

carried on one of the sex
chromosomes,
Morgan's illustration
(3) other genes were of crossing over
probably carried on
specific chromosomes as
well.
3
• Centimorgan (cM) or map unit (m.u.) is a unit for
measuring genetic linkage. It is defined as the distance
between chromosome positions (loci or markers) for which the
expected average number of intervening chromosomal crossovers in a
single generation is 0.01.
• Genetic linkage is the tendency of DNA sequences that are close

together on a chromosome to be inherited together during the meiosis
phase of sexual reproduction
Linked genes 4
Studies have shown that crossing over occurs virtually between all chromosomes.
A linkage map (genetic map) shows the position of genes relative to each other
in terms of recombination frequency
The greater the frequency of recombination between two genetic markers, the
further apart they are assumed to be.
Recombination frequency (n) is determined by this formula

N - number of recombinants
N0 - total number of descendants
5
Thomas Hunt Morgan's Drosophila melanogaster genetic linkage map
The map shows the relative positions of alleles on the second Drosophila chromosome. The
distances between the genes (centimorgans) are equal to the percentages of chromosomal
crossover events that occur between different alleles 6
Genetic mapping
for genes A, B, C
Сrossover value:
A - B = 6%,
B - C = 14%,
A - C = 8%
crossover value is the
linked frequency
of chromosomal
distance between genes is proportional to crossover between
two gene loci (markers).
the % of crossover between them 7
In real experiments, genetic maps can be distorted due to double
crossing over, when recombination occurs at two points at the same
time.
If there are 20% (p = 0.2) crossover gametes

between genes A and B and 30% (p = 0.3)
between B and C, then the probability of
double crossing over between genes A and B,
B and C, resulting in the appearance of
crossover gametes, is equal to 6% (0.2 x 0.3)
8
A double crossover between two nonsister chromatids produces
two double-crossover gametes.
Double crossover (DCO) is much rarer than a single
crossover (SCO).
9
Chromosome theory of inheritance
• Chromosomes are linear structures

• Genes are located in chromosomes at specific sites
called loci
• Chromosomes are the basis for all genetic inheritance
• The distance between genes is proportional to % of
crossing over.
10
X-linked Inheritance
Different results obtained from crosses

between red-eyed and white-eyed
Drosophila.
The gene responsible for eye-color

is X-linked. Females have
2 X-chromosomes, while
males have 1 X-chromosome
and 1 Y-chromosome.
11
Sex Chromosome Inheritance in Fruit Flies X – linked Traits
Male Gametes
X Y
X XX XY
Female
Gametes X XX XY
Hemizygous - possessing a single allele

at a locus.
Males of organisms with XX-XY sex
determination are hemizygous for X-
linked loci, because their cells possess a
single X chromosome.
X linked alleles always show up in males

whether dominant or recessive because
males have only one X chromosome 12
Sex-determination system
Sexual characteristics are physical or behavioral traits of
an organism which are indicative of its biological sex, including:
• primary sexual characteristics (sex organs) used for

reproduction
• secondary sex characteristics which are not directly
part of the reproductive system (coloration, feathers,
horns, facial hair, etc.)
• Sexual dimorphism - two sexes of the same

species exhibit different characteristics beyond
the differences in their sexual organs
13
Hermaphrodite produce both male
and female gametes
Parthenogenesis - growth and

development of embryos occur Mating garden snails
without fertilization
Haplodiploidy - males develop

from unfertilized eggs and
are haploid, females develop from
fertilized eggs and are diploid 14
Hormones that express sexual
differentiation in humans include:
 estrogens
 progesterone
 androgens such as testosterone
•The sex chromosomes are homologous if (XX)
but are not homologous if (XY)
Mammals birds, insects
15
Genetic sex-determination systems
• sex is determined by the genome it inherits
• sex may be determined either by the presence of a
sex chromosome or by how many the organism
has
• 1:1 ratio of male and female offspring
• In humans the "default sex" is female-like
• In humans, biological sex is determined by five

factors: the presence of Y-chromosome, the type
of gonads, the sex hormones, the internal
reproductive anatomy, and the external genitalia.
16
Nongenetic sex-determination systems
• temperature-dependent sex
determination (reptiles)
• sequential hermaphroditism -
change sex over the course of
their lifespan Clownfishes are initially
male; the largest fish in a
group becomes female17
• Examples of recessive sex-linked disorders:
1. colorblindness – inability to distinguish between certain colors
You should see

58 (upper left),
18 (upper right),
E (lower left) and
17 (lower right).
2. hemophilia – blood won’t clot
Map of chromosome Y
•Contains over 1400 genes

•Contains over 150 million base pairs, of
which approximately 95% have been
determined
Contains over 200 genes

20
Chromosome abnormalities (mutations)
Structural chromosome abnormalities: Numerical abnormalities:
When the chromosome's structure is • Polyploidy
altered. • Aneuploidy (monosomy,
• Deletions
• Duplications
trisomy, tetrasomy, etc).
• Translocations
• Inversions
• Rings
• Isochromosomes
21
Structural chromosome abnormalities
22
The major numerical abnormalities that survive to term
Syndrome Abnormality Incidence

Down’s Trisomy 21 15 in 10,000
Edwards’ Trisomy 18 3 in 10,000
Patau’s Trisomy 13 2 in 10,000
Turner Monosomy X 2 in 10,000 (female births)
Klinefelter’s XXY 10 in 10,000 (male births)
10 in 10,000 (female
XXX XXX
births)
XYY XYY 10 in 10,000 (male births)

23

2 Genetics

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2 Genetics

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T. Boveri and W.

Sutton theory - the

Since 1910, the experiments of T.

P1 Red ♀ × P1 White ♂ F1 = All Red F1 = All Red*

*Morgan did observe 3 white-eyed males in the F1 generation. 2

(2) the trait was probably

• Genetic linkage is the tendency of DNA sequences that are close

Recombination frequency (n) is determined by this formula

If there are 20% (p = 0.2) crossover gametes

• Chromosomes are linear structures

Different results obtained from crosses

The gene responsible for eye-color

Hemizygous - possessing a single allele

X linked alleles always show up in males

• primary sexual characteristics (sex organs) used for

• Sexual dimorphism - two sexes of the same

Parthenogenesis - growth and

Haplodiploidy - males develop

Mammals birds, insects

• In humans, biological sex is determined by five

You should see

•Contains over 1400 genes

Contains over 200 genes

Syndrome Abnormality Incidence

Turner Monosomy X 2 in 10,000 (female births)

Klinefelter’s XXY 10 in 10,000 (male births)

XYY XYY 10 in 10,000 (male births)

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