TON DUC THANG UNIVERSITY
FACULTY OF APPLIED SCIENCES
Department of Biotechnology
GENETICS (603062)
CHAPTER 3
The Chromosomal
Inheritance
OUTLINE
1. Chromosomes
2. The Chromosomal Theory of Inheritance
3. Sex chromosomes
4. Sex determination
5. Cytological techniques
6. Variation in Chromosomes
7. Linkage, Recombination, & Crossing Over
8. Genetic Mapping
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1. Chromosomes
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Anatomy of a chromosome
• Metaphase chromosomes are classified by the position of the centromere
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• There are four main types of chromosomes:
metacentric, submetacentric, acrocentric, and
telocentric.
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1. Chromosomes
• Each species has a characteristic set of chromosomes
• Within a species, the number of chromosomes is almost
always an even multiple of a basic number
• In humans, for example, the basic number is 23
• The haploid, or basic, chromosome number (n) defines a
set of chromosomes called the haploid genome.
• Most somatic cells contain two of each of the
chromosomes in this set and are therefore diploid (2n).
Cells with four of each chromosome are tetraploid (4n),
those with eight of each are octoploid (8n), and so on.
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• The basic number of
chromosomes varies
among species.
• Chromosome number
is unrelated to the size or
biological complexity of
an organism, with most
species containing
between 10 and 40
chromosomes in their
genomes
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2. The Chromosomal Theory of
Inheritance
(a) Walter Sutton and (b) Theodor Boveri are credited with developing the
Chromosomal Theory of Inheritance, which states that chromosomes carry the
unit of heredity (genes).
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2. The Chromosomal Theory of
Inheritance
The Chromosomal Theory of Inheritance was consistent with
Mendel’s laws and was supported by the following observations:
• During meiosis, homologous chromosome pairs migrate as discrete
structures that are independent of other chromosome pairs.
• The sorting of chromosomes from each homologous pair into pre-
gametes appears to be random.
• Each parent synthesizes gametes that contain only half of their
chromosomal complement.
• Even though male and female gametes (sperm and egg) differ in size
and morphology, they have the same number of chromosomes,
suggesting equal genetic contributions from each parent.
• The gametic chromosomes combine during fertilization to produce
offspring with the same chromosome number as their parents.
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2. The Chromosomal Theory of
Inheritance
Experimental evidences (11:40)
- 1909, Thomas H. Morgan discovered a particular eye color
mutation in the fruit fly, Drosophila melanogaster
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2. The Chromosomal Theory of
Inheritance
Morgan’s experiment studying
the inheritance of white eyes in
Drosophila.
The transmission of the mutant
condition in association with sex
suggested that the gene for eye
color was present on the X
chromosome but not on the Y
chromosome
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Experimental tests of Morgan’s hypothesis that the gene for eye color in Drosophila is
X-linked.
(a) Experiment in which heterozygous females were crossed to white-eyed males.
(b) Experiment in which white-eyed females were crossed to wild-type males
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X chromosome nondisjunction is responsible
for the exceptional progeny that appeared in
Bridges’ experiment.
Nondisjunctional eggs that contain either
two X chromosomes or no X chromosome
unite with normal sperm that contain either
an X chromosome or a Y chromosome to
produce four types of zygotes. The XXY
zygotes develop into white-eyed females, the
XO zygotes develop into red-eyed, sterile
males, and the YO zygotes die. Some of the
XXX zygotes develop into sickly, red-eyed
females, but most of them die.
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2. The Chromosomal Theory of
Inheritance
• Genes are located on chromosomes.
• The disjunction of chromosomes during meiosis is
responsible for the segregation and independent
assortment of genes.
• Nondisjunction during meiosis leads to abnormal numbers
of chromosomes in gametes and, ultimately, in zygotes.
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2. The Chromosomal Theory of
Inheritance
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Mendel’s Principle of
Independent Assortment
and meiotic chromosome
behavior.
Alleles on different pairs of
chromosomes assort
independently in the
anaphase of the first meiotic
division because
maternally and paternally
inherited chromosomes
have aligned randomly on
the cell’s equator
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3. Sex chromosomes
• Sexual phenotype: male or female
• sex determination: Specification of sex (male or
female). Sex-determining mechanisms include
chromosomal, genic, and environmental sex-
determining systems
• sex in many organisms is determined by a pair of
chromosomes, the sex chromosomes, which differ
between males and females.
• The non-sex chromosomes, which are the same
for males and females, are called autosomes
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3. Sex chromosomes
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3. Sex chromosomes
• A major extension of these Mendelian principles is the
pattern of inheritance exhibited by sex-linked
characteristics: characteristics determined by genes located
on the sex chromosomes.
• Genes on the X chromosome determine X-linked
characteristics; those on the Y chromosome determine Y-
linked characteristics. Because the Y chromosome of many
organisms contains little genetic information, most sex-linked
characteristics are X linked.
• Males and females differ in their sex chromosomes, so the
pattern of inheritance for sex-linked characteristics differs
from that exhibited by genes located on autosomes.
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3. Sex chromosomes
In humans:
Disorders such as hemophilia and color blindness, which
are caused by recessive X-linked mutations, are more
common in males than in females
• The Y chromosome carries fewer genes than the X
chromosome.
• Pseudoautosomal genes are located on both the X and
Y chromosomes.
Human X and Y chromosomes.
The terminal regions are common
to both sex chromosomes.
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3. Sex chromosomes
• Dosage compensation : Equalization in males and females of
the amount of protein produced by X-linked genes. In placental
mammals, dosage compensation is accomplished by the random
inactivation of one X chromosome in the cells of females.
• Lyon hypothesis :Proposal by Mary Lyon in 1961 that one X
chromosome in each female cell becomes inactivated (a Barr
body) and that which of the X chromosomes is inactivated is
random and varies from cell to cell.
• Barr body : Inactivated X chromosome that appears as a
condensed, darkly staining structure in most cells of female
placental mammals.
(a) Female cell with a Barr body (b) Male cell without a Barr body
(indicated by arrow).
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Genetics is an inactivated X chromosome.
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3. Sex chromosomes
• Hemizygosity :Possession of 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.
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3. Sex chromosomes
Sex-influenced characteristics
are determined by autosomal genes
and are inherited according to
Mendel’s principles, but they are
expressed differently in males and
females.
For example: an autosomal dominant gene
may have higher penetrance in males than in
females, or an autosomal gene may be
dominant in males but recessive in females
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3. Sex chromosomes
Sex-limited characteristics
is encoded by autosomal genes
that are expressed in only one
sex; the trait has zero
penetrance in the other sex.
Both males and females carry
genes for sex-limited Cock-feathered male.
characteristics, but the
characteristics appear in only
one of the sexes
Hen-feathered male.
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4. Sex determination
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4. Sex determination
Sex determination in birds. Sex determination in honeybees.
The female is heterogametic (ZW), and Females, which are derived from
the male is homogametic (ZZ). The sex fertilized eggs, are diploid, and males,
of the offspring is determined by which of which are derived from unfertilized eggs,
the sex chromosomes, Z or W, is are haploid.
transmitted by the female
Sex Determination: More Complicated
3/31/2022 Than You Thought - YouTube
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4. Sex determination in Humans
The role of sex chromosomes in human sex determination:
• The X chromosome contains genetic information essential for both sexes; at
least one copy of an X chromosome is required for human development.
• The male-determining gene is located on the Y chromosome. A single copy
of this chromosome, even in the presence of several X chromosomes,
usually produces a male phenotype.
• The absence of the Y chromosome usually results in a female phenotype.
• Genes affecting fertility are located on the X and Y chromosomes. A female
usually needs at least two copies of the X chromosome to be fertile.
• Additional copies of the X chromosome may upset normal development in
both males and females, producing physical problems and intellectual
disabilities that increase as the number of extra X chromosomes increases.
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4. Sex determination in Humans
1 Turner syndrome
• Human condition in which cells contain a single X chromosome and no Y chromosome (XO). People
with Turner syndrome are female in appearance but do not undergo puberty and have poorly
developed female secondary sex characteristics; most are sterile but have normal intelligence.
2 Klinefelter syndrome
• Human condition in which cells contain one or more Y chromosomes along with multiple X chromosomes (most
commonly XXY but may also be XXXY, XXXXY, or XXYY). People with Klinefelter syndrome are male in appearance
but frequently possess small testes, some breast enlargement, and reduced facial and pubic hair; often taller than
normal and sterile, most have normal intelligence.
3 triple-X syndrome
• Human condition in which cells contain three X chromosomes. A person with triple-X syndrome has a
female phenotype without distinctive features other than a tendency to be tall and thin; a few such
women are sterile, but many menstruate regularly and are fertile.
4 XYY Males
• Males with an extra Y chromosome (XYY) occur with a frequency of about 1 in 1000 male births. These
individuals have no distinctive physical characteristics other than a tendency to be several inches
taller than the average of XY males
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4. Sex determination in Humans
Sex-determining
region Y
The process of sex determination in humans.
Male sexual development depends on the production of the testis-determining factor (TDF) by a gene (SRY
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gene) on the Y chromosome. In the absence of this factor, the embryo develops as a female 29
4. Sex determination in Humans
Evidence localizing the gene for the testis-determining factor (TDF) to the short arm
of the Y chromosome in normal males.
The TDF is the product of the SRY gene. In XX males, a small region containing this
gene has been inserted into one of the X chromosomes,
and in XY females, it has been deleted from the Y chromosome.
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5. Cytological techniques
• Cytogenetic analysis usually focuses on chromosomes
in dividing cells.
Cytology - YouTube
How to Prepare a Slide for a Cytology Evaluation - YouTube
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• A karyotype shows the duplicated chromosomes
of a cell arranged for cytogenetic analysis.
The ideogram of human chromosome 5.
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Pedigree characteristics
• Usually appears in both sexes with equal frequency.
• Tends to skip generations.
Autosomal • Affected offspring are usually born to unaffected
recessive trait parents.
• When both parents are heterozygous, approximately
one-fourth of the offspring will be affected.
• Usually appears in both sexes with equal frequency.
• Does not skip generations.
• Affected offspring must have an affected parent unless
Autosomal they possess a new mutation.
Dominant Trait • When one parent is affected (heterozygous) and the
other parent is unaffected, approximately half of the
offspring will be affected.
• Unaffected parents do not transmit the trait.
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Pedigree characteristics
• Usually more males than females are affected.
• Affected sons are usually born to unaffected mothers; thus, the
trait skips generations.
X-Linked
• Approximately half of a carrier (heterozygous) mother’s sons
Recessive Trait are affected
• Never passed from father to son.
• All daughters of affected fathers are carriers.
• Both males and females are usually affected; often, more
females than males are affected.
• Does not skip generations. Affected sons must have an affected
X-Linked mother; affected daughters must have either an affected
Dominant Trait mother or an affected father.
• Affected fathers pass the trait to all their daughters.
• Affected mothers (if heterozygous) pass the trait to half of their
sons and half of their daughters
• Only males are affected.
Y-Linked Trait • Passed from father to all sons.
• Does not skip generations.
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Standard symbols are used in pedigrees
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Exercise
The following pedigree represents the inheritance of a rare disorder in an
extended family. What is the most likely mode of inheritance for this
disease? (Assume that the trait is fully penetrant.)
Answer: X-linked recessive is the most likely mode of inheritance.
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Exercise
This blood-clotting disorder is inherited as an X-linked recessive trait.
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6. Variation in Chromosomes
https://microbenotes.com/chromosomal-mutation/
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6. Variation in Chromosomes
• Chromosomal mutations are the result of certain
accidents or irregularities in the chromosomes at the
time of cell division, crossing over, or fertilization- cause
alterations in the morphology and number of
chromosomes.
• cause different genetic diseases that can be hereditary
and are transferred from one generation to another.
• however, do not always affect the functioning of the cell
as some mutations might affect regions of chromosomes
that do not make up the genetic makeup of the organism.
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6. Variation in Chromosomes
Numerial chromosomal instability
The change in the number of whole chromosomes is
called heteroploidy. It produces phenotypic changes,
modifications of phenotypic ratios, and alteration of
linkage groups
• Aneuploidy - changes parts of a chromosome set
• Polyploidy - changes in the entire set of
chromosomes, where an organism has more than
two sets of genomes (2x).
Foods That Originally Looked Totally Different - YouTube
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6. Variation in Chromosomes
Numerial chromosomal instability
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6. Variation in Chromosomes
Structural chromosomal instability
• Structural changes in chromosomes usually occur due
to the property of the chromosomes to form pairing and
undergo contortions, as well as due to the tendency to
break and form sticky ends.
This type of mutation occurs when a part of the
DNA is not duplicated or is lost during DNA
replication. The size of this region can either be
a mere nucleotide or can be large as an entire
chromosome.
Common disorders: Cri du chat, Duchenne
muscular dystrophy, Di George’s syndrome, etc.
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6. Variation in Chromosomes
Structural chromosomal instability
an extra copy of a region (or regions) in the DNA is
produced. This duplicated region can either be
located in its normal location in the chromosome or
sometimes be located in other parts of the
chromosomes or even in another chromosome.
This duplication can now supply additional material
that has the ability to evolve new functions.
Common disorder: Charcot-Marie-Tooth
disease type I.
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6. Variation in Chromosomes
Structural chromosomal instability
During inversion, a portion in the chromosome is reversed
and gets inserted back into the chromosome.
- During a pericentric inversion, the inversion encompasses the centromere
of the chromosome.
- During a paracentric inversion, it only involves either the short or long arm
of the chromosome and the inversion point does not include the centromere.
Common disorder: Amniocentensis during pregnancy.
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6. Variation in Chromosomes
Structural chromosomal instability
Translocation
Translocation happens when a
fragmented chromosome tends to join
with a non-homologous chromosome.
This newly-formed segment then
detaches from the chromosome and
moves to a new position on another
chromosome.
Common disorders: XX male syndrome,
Down syndrome, Infertility and Cancer.
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7. Linkage, Recombination, &
Crossing Over
• Two genes that occur on the same chromosome are said to be
linked, and those that occur very close together are tightly
linked.
• Linkage group: all of the genes on a single chromosome are
inherited as a group. During cell division they act and move as a
unit rather than independently.
• The number of linkage groups for an organism is equal to its
number of homologous chromosome pairs.
Ex: Humans have 23 pairs of chromosomes- have 23 linkage groups
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7. Linkage, Recombination, &
Crossing Over
Complete and Incomplete Linkage
Genes that are so close together on a chromosome that
they are always inherited as a single unit show a
relationship referred to as complete linkage.
♂ F1 Test Cross
♂ ♀
F1: 100%
F2:
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7. Linkage, Recombination, &
Crossing Over
• Complete and Incomplete Linkage
Incomplete linkage occurs when two genes show linkage with a
recombination level greater than 0% and less than 50%
In incomplete linkage, all expected types of gametes are formed, but the
recombinant gametes occur less often than the parental gametes.
♀ F1 Test Cross
F1:
100%
♀
♂
F2:
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P
Hypothesis of linkage between
the genes for flower color and
pollen length in sweet peas. F1
In the F1 plants the two dominant
alleles, R and L, of the genes are
situated on the same
chromosome; their recessive
alleles, r and l, are situated on the
homologous chromosome.
F1
Gametes
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Linkage phases
• Linkage phase—the way in which the alleles are arranged in
heterozygous individuals
• Whenever the dominant alleles are all on one side of the slash -
the genotype has the coupling linkage phase.
• When the dominant and recessive alleles are split on both sides of
the slash - the genotype has the repulsion linkage phase.
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A testcross for linkage between
genes in sweet peas.
Because the recombinant progeny in
the F2 are 8 percent of the total, the
genes for flower color and pollen
length are rather tightly linked
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7. Linkage, Recombination, &
Crossing Over
Recombination is caused by a physical exchange between paired
homologous chromosomes early in prophase of the first meiotic division
after chromosomes have duplicated.
At any one point along a chromosome, the process of exchange
(crossing over) involves only two of the four chromatids in a meiotic
tetrad.
Late in prophase I, crossovers become visible as chiasmata.
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Consequences of multiple
exchanges between
chromosomes and
exchange between sister
chromatids during
prophase I of meiosis.
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8. Genetic Mapping
• The distance between two points on the genetic map of a
chromosome is the average number of crossovers between
them
• Genetic map = linkage map = chromosome map
• A recombinant frequency (RF) of 1% is equivalent to 1 cM
• Unit: centiMorgan (cM)
100 cM = 1 M (Morgan)
Bridges and Olbrycht’s map of seven X-linked genes
in Drosophila. Distances are given in centiMorgans.
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8. Genetic Mapping
• Mapping function: the relation between genetic map
distance and the frequency of recombination
• Chromosome interference: crossovers in one region
decrease the probability of a second crossover close
by
• Coefficient of coincidence (c)
• Interference = 1 – Coefficient of coincidence
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8. Genetic Mapping
• Linkage between human genes can be detected by
analyzing pedigrees.
• Pedigree analysis also provides estimates of
recombination frequencies to map genes on human
chromosomes
• Recombination can bring favorable mutations together.
• Chromosome rearrangements, especially inversions,
can suppress recombination.
• Recombination is under genetic control.
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Exercises
1. A geneticist has estimated the number of exchanges
that occurred during meiosis on each of 100 chromatids
that were recovered in gametes. The data are as follows:
What is the genetic length in centiMorgans of the
chromosome analyzed in this study?
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Exercises
2. Data from a set of testcrosses with the mosquito Anopheles
culicifacies, a vector for malaria in southern Asia.
The data involved three mutations: bw (brown eyes), c (colorless
eyes), and Blk (black body). In each cross, repulsion
heterozygotes were mated to mosquitoes homozygous for the
recessive alleles of the genes, and the progeny were scored as
having either a parental or a recombinant genotype. Are any of
the three genes studied in these crosses linked? If so, construct
a map of the linkage relationships
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3, Singed bristles (sn),
crossveinless wings (cv), and
vermilion eye color (v) are due
to recessive mutant alleles of
three X-linked genes in
Drosophila melanogaster.
When a female heterozygous
for each of the three genes
was testcrossed with a singed,
crossveinless, vermilion male,
the following progeny were
obtained:
A, What is the correct order of these three genes on the X
chromosome?
B, What are the genetic map distances between sn and cv, sn
and v, and cv and v?
C, What is the coefficient of coincidence?
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