Karyotypes and

Nondisjunction
1. Have you seen or meet a person with
Down syndrome?
2. What do you think is the reason why
there are people born with disabilities?
3. Will Cell Division affect disorders like that
of Down Syndrome? How?
Gene Mutations
– Mutations that involve changes in one or a
few nucleotides are known as point
mutations because they occur at a single
point in the DNA sequence. They generally
occur during replication.
– If a gene in one cell is altered, the alteration
can be passed on to every cell that develops
from the original one.
 Gene Mutations
– Point mutations include substitutions,
insertions, and deletions.
 Substitutions
– In a substitution, one base is changed to a
different base.

– Substitutions usually affect no more than a

single amino acid, and sometimes they have
no effect at all.
 Substitutions
– In this example, the base cytosine is replaced
by the base thymine, resulting in a change in
the mRNA codon from CGU (arginine) to CAU
(histidine).

– However, a change in the last base of the

codon, from CGU to CGA for example, would
still specify the amino acid arginine.
 Insertions and Deletions
– Insertions and deletions are point mutations in
which one base is inserted or removed from
the DNA sequence.

– If a nucleotide is added or deleted, the bases

are still read in groups of three, but now those
groupings shift in every codon that follows the
mutation.
 Insertions and Deletions
– Insertions and deletions are also called
frameshift mutations because they shift the
“reading frame” of the genetic message.

– Frameshift mutations can change every amino

acid that follows the point of the mutation and
can alter a protein so much that it is unable to
perform its normal functions.
 Chromosomal Mutations
– Chromosomal mutations involve changes in
the number or structure of chromosomes.

– These mutations can change the location of

genes on chromosomes and can even change
the number of copies of some genes.

– There are four types of chromosomal

mutations: deletion, duplication, inversion, and
translocation.
 Chromosomal Mutations
– Deletion involves the loss of all or part of a
chromosome.
 Chromosomal Mutations
– Duplication produces an extra copy of all or
part of a chromosome.
 Chromosomal Mutations
– Inversion reverses the direction of parts of a
chromosome.
 Chromosomal Mutations
– Translocation occurs when part of one
chromosome breaks off and attaches to
another.
◼ Nondisjunction is when chromosomes fail to separate
properly during meiosis (specifically anaphase). It can
occur during meiosis I or meiosis II. If it occurs during
meiosis I, all of the cells will be affected and if one of
the cells is fertilized it will result in a zygote with too
many or too few chromosomes. If nondisjunction occurs
during meiosis II, half of the cells will be affected and
half will be normal.
 KARYOTYPE: Definition
◼ Picture of chromosomes taken during
metaphase (mitosis) when chromosomes are fully
condensed
◼ Chromosomes are arranged large to small by
homologous pairs
– sex chromosomes shown last

◼ Normal human karyotypes show 46

chromosomes
– 44 autosomes (22 pairs of homologous
chromosomes)
– 2 sex chromosomes
KARYOTYPE: Human Chromosomes
 KARYOTYPE: How it is useful
◼ In order to study differences in size, shape, and
chromosome number (too few or too many)

◼ Determines the sex of the child

◼ Usually done for humans when a known

chromosomal disorder runs in family
– (i.e. Down Syndrome)
◼ Can be done for any organism
Disjunction

◼ The normal separation of chromosomes in

meiosis I or sister chromatids in meiosis II is
termed disjunction.

◼ When the separation is not normal, it is called

nondisjunction.
NONDISJUNCTION:
 Definition and Results
◼ Form of chromosomal mutation during meiosis
when homologous chromosomes fail to
separate

◼ Results in abnormal number of chromosomes

in gametes, which can possibly lead to a
disorder in the offspring
 nondisjunction
◼ Nondisjunction ("not coming apart") is the
failure of chromosome pairs to separate
properly during meiosis stage 1 or stage 2.
◼ This could arise from a failure of
homologous chromosomes to separate in
meiosis I, or the failure of sister
chromatids to separate during meiosis II
or mitosis.
Nondisjunction
 nondisjunction
◼ The result of this error is a cell with an
imbalance of chromosomes. Such a cell is
said to be aneuploid.
 Aneuploidy
◼ Aneuploidy is an abnormal number of chromosomes, and
is a type of chromosome abnormality. An extra or
missing chromosome is a common cause of genetic
disorders (birth defects).

◼ Aneuploidy occurs during cell division when the

chromosomes do not separate properly between the two
cells (nondisjunction). Chromosome abnormalities occur
in 1 of 160 live births.

◼ Most cases of aneuploidy result in termination of the

developing fetus, but there can be cases of live birth; the
 most common extra chromosomes among live births are
21, 18 and 13.

Nondisjunction

◼ Nondisjunction can occur in the meiosis I

or meiosis II, phases of cellular
reproduction, or during mitosis.

◼ This results in the production of gametes

which have either too many or too few of a
 particular chromosome, and is a common
mechanism for monosomy or trisomy .
Nondisjunction
◼ Loss of a single chromosome (2n-1), in
which the daughter cell(s) with the defect
will have one chromosome missing from
one of its pairs, is referred to as a
monosomy.

◼ Gaining a single chromosome, in which the

daughter cell(s) with the defect will have
 one chromosome in addition to its pairs is
referred to as a trisomy.
Nondisjunction
This is a cause of several medical conditions in humans,
including but not limited to:
◼ Patau Syndrome - trisomy of chromosome 13
◼ Edward Syndrome - trisomy of chromosome 18
◼ Down Syndrome - trisomy of chromosome 21
◼ Klinefelter Syndrome - extra X chromosomes in males
- i.e. XXY, XXXY, XXXXY, etc.
◼ Turner Syndrome - lacking of one X chromosome in
females - i.e. X0
◼ Triple X syndrome - an extra X chromosome in
females
◼ XYY Syndrome - an extra Y chromosome in males.

Prenatal Diagnosis
 Amniocentesis
◼ A small sample of the amniotic fluid
surrounding the baby is removed using a
syringe.

◼ The fluid contains skin cells from the baby.

◼ The skin cells are grown in the lab.

◼ The chromosomes from the cells
are magnified under a
microscope and a picture is
taken.

◼ The chromosomes are cut out

and arranged in homologous
pairs in decreasing size order.

◼ This is called a karyotype.

Down Syndrome (Trisomy 21)

◼ Extra chromosome 21 in every

cell of the body
◼ Karyotype = 47,XX+21 or
47,XY+21
◼ As a woman gets older, her chances of
having a baby with a chromosome
abnormality increases

***remember, a woman is born with all of her

egg cells, but meiosis is not yet complete
(egg development stops in prophase I until
the follicle matures prior to ovulation)
Turner Syndrome
Trisomy 13
Trisomy 18
 NONDISJUNCTION:
Examples of Disorders
◼ Down Syndrome – (autosome) - three copies
of chromosome 21
– Karyotype shows 47 chromosomes (Trisomy 21)
– Results in various degrees of mental disabilities,
causes decrease immunities to diseases/organ
defects, distinguished facial features

◼ Edward’s Syndrome – (autosome) three

copies of chromosome 18
– Karyotype shows 47 chromosomes (Trisomy 18)
– Results in failure of all organ systems, death after a
few months
 NONDISJUNCTION:
Examples of Disorders
◼ Turner’s Syndrome – (sex chromosome) – only
one
X chromosome is inherited
– Karyotype 45, X
– Results in sterile female, short in stature, heart and
kidney defects
◼ “Superfemale” – (sex chromosome) – extra X
chromosome is inherited
– Karyotype 47, XXX (Trisomy X)

– Results in healthy, fertile female

Turner’s Syndrome
 NONDISJUNCTION:
Examples of Disorders
◼ Klinefelter’s Syndrome – (sex chromosome) –
extra X chromosome(s) is/are inherited
– Karyotype 47, XXY (or even 48, XXXY; 49, XXXXY)

– Usually results in sterile male

◼ “Supermale” – (sex chromosome) – extra Y
chromosome is inherited
– Karyotype 47, XYY
– Usually results in sterile, more violent, decreased
intelligence, taller male
Nondisjuction
◼ Surprisingly, in
plants, extra
chromosomes can
actually be helpful.

◼ Sometimes it
makes larger
flowers and fruits!