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Chromosome structures and func0ons
How long DNA fit in small space in eukaryotes

Dr Joanna Ho
Email: joannaho@hku.hk
BMSN2202_For 2015-16_J HO
Learning Objec0ves
Appreciate the structural organisaHon of chromosomes

Understand the organisaHon of chromosomal segregaHons at
metaphase
Describe major categories of chromosomal aberraHons
Learning Objec0ves
Appreciate the structural organisa1on of chromosomes

metaphase
circular DNA
DNA fibers
circular DNA (not found in human)
L28 double hetax
Learning Objec0ves

Understand the organisa1on of chromosomal segrega1ons at
metaphase
23 pairs = 22autosome + 1 sex chromosome (sex-linked)
23 chromosome from sperm
egg
cant be seen > phenotype (hair colour)
genotype level
A: dominant
a: recessive
(F) (M)
Aa X AA
A a
A AA Aa
A AA Aa
A: black hair
a: brown hair
Their offsprings X brown hair
Learning Objec0ves

metaphase
Describe major categories of chromosomal aberra1ons
Chromosomal Aberra0ons
The somaHc (2n) and gameHc (n) chromosome numbers of a species

ordinarily remain constant.
This is due to the extremely precise mitoHc and meioHc cell division.
SomaHc cells of a diploid species contain two copies of each
chromosome, which are called homologous chromosome.
Their gametes, therefore contain only one copy of each chromosome,
that is they contain one chromosome complement or genome.
Each chromosome of a genome contains a denite numbers and kinds of
genes, which are arranged in a denite sequence.
Chromosomal Aberra0ons
SomeHme due to mutaHon or spontaneous (without any known

causal factors), variaHon in chromosomal number or structure do
arise in nature. - Chromosomal aberraHons.
Chromosomal aberraHon may be grouped into two broad classes:
1. Structural
2. Numerical
Structural Chromosomal Aberra0ons
Chromosome structure variaHons result from chromosome breakage.

Broken chromosomes tend to re-join; if there is more than one
break, rejoining occurs at random and not necessarily with the
correct ends.
The result is structural changes in the chromosomes.
Chromosome breakage is caused by X-rays, various chemicals, and
can also occur spontaneously.
Types of structural aberra0ons
There are four common type of

structural aberraHons:
(a) DeleHon or Deciency
(b) DuplicaHon or Repeat
(c) Inversion
(d) TranslocaHon
Varia0on in chromosome number
Organism with one complete set of chromosomes is

said to be euploid (applies to haploid and diploid
organisms).
Aneuploidy - variaHon in the number of individual

chromosomes (but not the total number of sets of
chromosomes).

Non-Disjunc0on
Generally during gametogenesis,

the homologous chromosomes of
each pair separate out (disjuncHon)
and are equally distributed in the
daughter cells.
But someHme there is an unequal
distribuHon of chromosomes in the
daughter cells.
The failure of separaHon of
homologous chromosome is called
non-disjunc1on.
This can occur either during
mitosis or meiosis or
embryogenesis.
Non-Disjunc0on
Mito1c non-disjunc1on: The failure of separaHon of homologous

chromosomes during mitosis is called mitoHc non-disjuncHon.
It occurs a]er ferHlizaHon.
May happen during rst or second cleavage.
Here, one blastomere will receive 45 chromosomes, while other will
receive 47.
Meio1c non-disjunc1on: The failure of separaHon of homologous
chromosomes during meiosis is called mitoHc non-disjuncHon
Occurs during gametogensis
Here, one type contain 22 chromosome, while other will be 24.
Varia0on in chromosome number:

Aneuploidy not generally well-tolerated in animals; primarily detected a]er
spontaneous aborHon.
Four main types of aneuploidy:
Nullisomy = loss of one homologous chromosome pair.

Monosomy = loss of a single chromosome.

Trisomy = one extra chromosome.

Tetrasomy = one extra chromosome pair.

Sex chromosome aneuploidy occurs more o]en than autosome aneuploidy
(inacHvaHon of X compensates).
e.g., autosomal trisomy accounts for ~1/2 of fetal deaths.

VariaHon in chromosome number:
21st chromosome
Down Syndrome (trisomy-21, OMIM-190685):

Occurs in 1/286 concepHons and 1/699 live births.

Probability of non-disjuncHon trisomy-21 occurring varies with age of ovaries
and testes.
Trisomy-21 also occurs by Robertsonian translocaHon joins long arm of

chromosome 21 with long arm of chromosome 14 or 15.
Familial down syndrome arises when carrier parents (heterozygotes) mate

with normal parents.
1/2 gametes are inviable.
1/3 of live ospring are trisomy-21; 1/3 are carrier heterozygotes, and 1/3 are
normal.

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Chromosome structures and func0ons

How long DNA fit in small space in eukaryotes

Appreciate the structural organisaHon of chromosomes

Appreciate the structural organisa1on of chromosomes

Appreciate the structural organisaHon of chromosomes

Appreciate the structural organisaHon of chromosomes

The somaHc (2n) and gameHc (n) chromosome numbers of a species

SomeHme due to mutaHon or spontaneous (without any known

Chromosome structure variaHons result from chromosome breakage.

There are four common type of

Organism with one complete set of chromosomes is

Aneuploidy - variaHon in the number of individual

Generally during gametogenesis,

Mito1c non-disjunc1on: The failure of separaHon of homologous

Four main types of aneuploidy:

Nullisomy = loss of one homologous chromosome pair.

e.g., autosomal trisomy accounts for ~1/2 of fetal deaths.

Trisomy-21 also occurs by Robertsonian translocaHon joins long arm of

Familial down syndrome arises when carrier parents (heterozygotes) mate

1/2 gametes are inviable.

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