Human Chromosomes

Human
chromosomes
Human chromosomes
morphologic substrate of H and V;
supramolecular level of organization of genetic material (DNA +
histones + non-histones + RNA)
dynamic structures with different shape,

level of condensation, gene activity:
single-chromatid or two-chromatid;
chromatin or chromosome;
transcriptional active or inactive.
2
self-reproduction of chromosomes takes place

during S phase of interphase (replication)
chromosomes represent linkage groups of genes:
each chrs contains a specific number of genes;
each gene has a specific place in chrs - locus;
genes of one chromosome are inherited together
a diploid set of chromosomes is called karyotype:

23 pairs: 22 pairs of autosomes + 1 pair of gonosomes (XX or
XY)
Pair of chromosomes = homolougus chromosomes
3
Origin of gonosomes
landmarks of karyotype:
relative and absolute length of chrs

position of centromere = primary constriction - c
presence of secondary constrictions - h
presence of satellites - s
chromosomes clould be analyzed during:
metaphase (homogenous painting or banding)

prometaphase (banding)
interphase (hybridization with fluorescent probes)
chromosomes
have
heterogeneous
structure:
coding and non-coding sequences;

euchromatin and heterochromatin,
single copy and repetitive sequence;
GC and AT reach sequences;
transcribed and non-transcribed
sequences;
sequences associated with basic and
basic proteins.
!!! This explains origin of
chromosomal bands
Chromosomal number and structural

abnormalities induce developmental
abnormalities - sundromes
6
Structure of metaphase chromosomes.

Rchromosomal landmarks
Satellite
Secondary
constriction
Centromere
Primary
constriction
Sister
chromatids
The shape of chromosome depends on the

position of centromere
7
p x100
CI p
q
Human karyotype
Classification of chromosomes
By length:
By shape:
By type:
- Large
- Metacentric
- Autosomes
- Medium
- Submetacentri
c
- Gonosomes
- Small
- Acrocentric
By presence of
other
landmarks:
- h on p arm
- h on q arm
- satellites
Groups:
A 1-3
E 16-18
B 4,5
F 19,20
C X, 6-12
G 21, 22,
Y
D 13-15
10
Human karyotype and

chromosomal formula
46,XX normal karyotype
46,XY normal karyotype
47,XXY gonosomal trisomy (Klinefelter sdr.)
45,X gonosomal monosomy (Turner sdr.)
47,XY,+21 autosomal trisomy (Down sdr.)
45,XY,-21 autosomal monosomy (lethal)
46,XX,5p- - deletion in chrs. 5 (crie du chat)
11
Human karyotype and

chromosomal formula
46,XX,13ps- polymorphism
46,XY, 15ph++ polymorphism
46,XX,15qh+ abnormality
46,XY,16ph++ abnormality
46,XY,16qh++ polymorphism
46,XX,16q- abnormality
46,XX,16p+ abnormality
46,XX,13p- polymorphism
12
Methods of chromosome
analysis
What is his karyotype?

He is 4 years old (looks like 2
y.o.)
Knows few words
Inadequate reaction
Abnormal face
Short hands
Heart abnormalities, kidney
abnormalities
Plurimapformative
syndrome
1. Collecting of nuclear cells (just leucocytes if

blood is used)
2. Cell culturing cells in different stages of cell cycle
Thermostat
37 C
Blood
cells
+
growth
broth
72
hours
Proliferation
After 72
hours
Cells in
differen
t stages
of cell
cycle
3. Preparation of chromosomes for analysis

Cytostatic
colchicine
Cells in
differen
t stages
of cell
cycle
Mitosis
arresting
Hypotonic
solution
Cell
sedimentati
on
Chromosom
e dispersing
4. Painting of chromosomes
Painting
Slide with fixed cells
Slide with metaphase plates
5. Karyotype analysis
Printing of
picture
Cutting individual
chromosomes
Preparation of
karyotype
47,XY,+21 Down syndrom
Cytogenetic methods used for

karyotype analysis:
To identify numeric aberrations

analysis of metaphase chromosomes
uniformly painted.
To identify numeric or structural

aberrations analysis of metaphase
or prometaphase chromosomes using
Q, G, R banding.
For exact identification of

chromosomes analysis of
metaphase chromosomes using T or
C banding.
Analysis of human karyotype

Metaphas
Prometapfas
Interphas
e
e
e
chromoso
chromosome
chromoso
mes
s
mes
X and Y
Molecular
G, R
Uniform G,Q,R,C,
sex
citogeneti
painting
T
banding
chromati
cal
banding
n
methods
analysis
FISH,
mFISH
SKY
CGH
*** No of bands per haploid set: 300-400 m / 550 pm /
850p
Type of banding Used dye

G
Giemsa
Quinacrin
(fluorescent)
R (revers)
Giemsa or
fluorescent
C (centromere)
Giemsa or
fluorescent
T (telomere)
Giemsa or
fluorescent
25
Chromosome staining
Homogenous
Banding
Bands G+ = Q+ = R
Bands G- = Q- = R +
How the same chromosome is painted in

different patterns?
45,X
47,XX,+18
69,XXX
47,XXY
46,XX,5p-
47,XX,+13
47,XX,+21
Uniform staining
C banding
Chromosomal banding
Chromosome
Arm
Region
Band
Subband
4p22.2
5q13.4
9p21.3
1p35
1p22
1q23
1q41
46,XY,del(1)(p11p34)
46,XY,del(1)(p11p34)
46,Y,del(X)(q12.1-q24.3)
FISH in chromosomal
analysis
Chromosome 4
Identification of X and 18 Identification of X, Y and 18
Identification of 18 of 21
Identification of 18 and 21
45
46,XX
47,XX,+21
47,XX,+21
47,XX,+21
SKY
mFISH
Karyotype
Normal
46,
XX
46,
XY
Normal
polymorphisms
Aneuploidy
46,XX,9qh
+
47,XX,
+21
46,XY,16q
h-
45,XY,12
46,XX,14s
++
48,XXX
Y
45,X
Polyploidy
Chromosomal
abberations
69,XX
X
46,XX,1q-
69,XX
Y
46,X,r(X)
46,XY,16p+
46,XY,del(5
p)
46,XX,t(12,
22)
Normal karyotype
46,XX
46,XY
Normal
phenoty
pe
Polymorphisms
Chrs D and G variations

in ph or s:
Chrs 1,9,16,9,Y
variations in qh
Trisomy 47,XXX; 47,XXY;
47,+21; 47,+13; 47,+18;
47,+8
Monosomy 45,X
inv
t
rob
Abnorm
al
phenoty
pe
Fenotip
patologi
c
del
dup
r
i
Fenotip
patologi
c
Aneuploidies
Balanced structural
aberrations
Unbalanced
structural
aberrations
Abnorm
al
phenoty
pe
??? Polymorphisms
p and q contain coding and non-coding
regions
p+ or p- - abnormality
q+ or q- - abnormality
c longer or shorter polymorphism
t longer or shorter polymorphism
h+ or h- - polymorphism
s+ or s- - polymorphism
Sex chromatin analysis

X chromatin analysis = Barr body test identification of nonactive X, in interphase nuclei of somatic cells
Y chromatin analysis = F body test identification of 2/3 of qY

in interphase nuclei of somatic cells or sperms
Normal karyotype
X
chromosome
genes:
1606 Y chromosome - 397 genes:
Structural somatic genes

Regulatory
genes;
Structural
genes;
regulatory masculinisation
genes
feminisation pseudogenes
!!! q arm contains
feminisation constitutive heterochromatin
Structural masculinisation
genes
!!! Important
X chromosome is mandatory for and :
In 46,XX only one X is active

In 46,XY are active both X and Y
In 47,XXX - only one X is active
In 47, XXY- are active only one X and one Y
In 48, XXXY- are active only one X and one Y
Y chromosome is mandatory for
How to explain this?

Primary
sexual traits different
Sexual
Secondary
dimorphism sexual traits - balanced
different
Somatic traits
- similar
45,X
47,XXY
46,XX
Active X euchromatin
46,XY
Inactive X heterochromati
n
Active X euchromatin
Barr body
= 1m
Y
chromosome
p arm
active
q
arm inactive
F body
= 0,25
Barr body X sex chromatin

NrBarr = X - 1
48,XXXY
45,X
50,XXXXYY
49,XXXXX
Barr body test
XXX
XXXX
F body test
YY
XXXXX
Barr body test

X sexual chromatin:
- represents an inactive X, facultative
heterochromatin, in somatic cells 46,XX;
- represents a Barr body 1m in diameter;
- Barr body test is useful for identification of No of
X chromosomes in somatic cells: No X = No Barr
+ 1.
46,XX 1 Barr body
46,XY 0
47,XXX 2
47,XXY - 1
45,X 0
48,XXXX 3
!!! M. Lyon (1961) - explanation of Barr body
Mary Lyon hypothesis
After 16th day
!!! In 46,XX cells after 16th day of development only one X remains active
In 50% of cells maternal X is active, in 50% - paternal X
46,XX
45,X active +X paternal
inactive
45,X active + X maternal
inactive
F body test
Y sexual chromatin:
- represents 2/3 of q arm of Y chromosome, its a
constitutive heterochromatin in somatic cells or 50%
of sperms (23,Y only);
- represents fluorescent F body 0,25m in diameter;
- F body test is useful for prenatal identification of
gender:
No Y = No F bodies
46,XX 0
46,XY 1
47,XYY 2
47,XXY - 1
48,XXYY 2
46,X,i(Yp) 0
46,X,i(Yq) 1 (0,5m)

Human Chromosomes

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Human Chromosomes

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Human

dynamic structures with different shape,

self-reproduction of chromosomes takes place

a diploid set of chromosomes is called karyotype:

relative and absolute length of chrs

metaphase (homogenous painting or banding)

coding and non-coding sequences;

Chromosomal number and structural

Structure of metaphase chromosomes.

The shape of chromosome depends on the

Human karyotype and

Human karyotype and

What is his karyotype?

1. Collecting of nuclear cells (just leucocytes if

2. Cell culturing cells in different stages of cell cycle

3. Preparation of chromosomes for analysis

Slide with fixed cells

Slide with metaphase plates

47,XY,+21 Down syndrom

Cytogenetic methods used for

To identify numeric aberrations

To identify numeric or structural

For exact identification of

Analysis of human karyotype

Type of banding Used dye

How the same chromosome is painted in

Identification of X and 18 Identification of X, Y and 18

Chrs D and G variations

Sex chromatin analysis

Y chromatin analysis = F body test identification of 2/3 of qY

1606 Y chromosome - 397 genes:

Structural somatic genes

In 46,XX only one X is active

Y chromosome is mandatory for

How to explain this?

Barr body X sex chromatin

Barr body test

Barr body test

Mary Lyon hypothesis

After 16th day

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