Preparation paper for test I, HG, 2015 Page 1 of 6

Concluding lesson I, HG, 2015

1. Topics for 1st test:
- Genetic apparatus of human cell:
o Components and their functions
o Characteristics of nuclear genome
o Characteristics of mitochondrial genome
o Dynamics of nuclear genetic material
- Heredity – molecular basis, medical importance
- Variability – sources, types, medical importance
- Human chromosomes
o Structure and classification
o Normal and pathological human karyotype
o Landmarks of human chromosomes
o Association karyotype - phenotype
o Methods of chromosome’ analysis
o Steps of karyotyping
- Chromosomal abnormalities
o Polyploidy – mechanisms, consequences
o Aneuploidy – mechanisms, consequences
o Balanced chromosomal aberrations – mechanisms, consequences
o Unbalanced chromosomal aberrations – mechanisms, consequences
o Chromosomal syndromes –Dawn s., Patau s., Edwards s., Turner s., Klinefelter s., cri-du-chat” s.
 Cause
 Associated karyotypes
 Mechanisms
- Sex chromatin
o X chromatin and hypothesis of M. Lyon
o Y chromatin
o Barr body test – indication and limits
- Cell-cell transmission of genetic information
o Chromosomes in different stages of mitosis
o Biological importance of mitosis
o Errors of mitosis and their consequences
o Chromosomal mosaics and their origin
- Generation to generation transmission of genetic material
o Chromosomes in different stages of meiosis
o Biological importance of meiosis
o Errors of meiosis and their consequences
o Aneuploid zygotes and their origin
o Counting of the risk for disease

2. Define the terms:

- Acrocentric - Chromosome - Nullisomy

- Satellite DNA - Heredity - Ovogonium
- aneuploidy - Phenotype - Ovum (egg)
- chromosomal abnormality - FISH - Chromosomal
- chromosomal band - Aneuploid gamete Polymorphism
- balanced chrs. aberration - Disomic gamete - proteinome
- balanced chrs. Aberration - Nulisomic gamete - Realization of genetic
- congenital abnormality - Gene pool material
- reproduction failure - Genom - RFLPs
- blastomere - Genotype - Satellite
- karyotype - Gonosome - Spermatogonia
- karyotyping - Linkage group - Spermatozoon
- aneuploid clone - Haplotype - Submetacentric
- Primary constriction - Chimera - Inheritance of GM
- Secondary constriction - Isochromosome - Trisomy
- Barr body - Lyonisation - Variability
- F body - Mini- and microsatellites - Zygote
- Chromatid - Monosomy
- Chromatin - Chromosomal mosaic
Preparation paper for test I, HG, 2015 Page 2 of 6

3. Fill in the table „Errors of mitosis and their consequences”. Identify the cases of aneuploidy
saving. (ND - non-disjunction; AL - anaphase lag; TCC - transversal cleavage of centromere)
Zygote Error When is Types of cells The karyotype of Phenotype Biological
produced carrier (mosaic) importance
46,XX ND chrs 13 Division of
blastomeres

46,XY AL csrs Y Division of

zygote

45,X ND chrs X Division of

blastomeres

47,XXY ND chrs X Division of

blastomeres

48,XXYY AL chrs X Division of

zygote

47,XX,+18 AL chrs 18 Division of

blastomeres

47,XY,+13 AL chrs 13 Division of

zygote

45,XY,-14 TCC Division of

chrs 14 zygote

47,XXY AL chrs Y Division of

blastomeres

46,XX ND chrs 18 Division of

zygote

45,X ND chrs X Division of

blastomeres

45,XY,-13 ND chrs 13 Division of

zygote

46,XY TCC chrs Y Division of

zygote

47,XY,+21 TCC chrs X Division of

blastomeres
Preparation paper for test I, HG, 2015 Page 3 of 6

4. Fill in the table and identify the errors of meiosis:

Ovogenesis → Ovule Spermatogenesis → Spermatozoon Zygotes Consequences
(%)
Normal ND sex chrs AI

AL chrs X AII Normal

ND chrs 21 AI Normal

Normal ND chrs 13 AII

Normal ND chrs Y AII

AL chrs X AI Normal

ND chrs 18 AII Normal

Normal AL chrs 8 AI

ND chrs X AI Normal
and AII

Normal TCC chrs X

Normal ND chrs Y AI
and AII

TCC chrs X Normal

ND chrs 13 AII Normal

Preparation paper for test I, HG, 2015 Page 4 of 6

5. Fill in the table. Identify the origin of aneuploidy (error of mitosis or meiosis)
Karyotype Abnormality Origin of When is Phenotype
aneuploidy produced
45,X

48,XXXY

47,XXY

47,XYY

45,X/46,XX

45,X/46,XY

46,X,i(Xq)

46,X,i(Yq)

47,XX,+21

47,XY,+18

46,XX/47,XX,+18

46,XY/47,XY,+8

47,XX,+13

47,XY,+21

46,XX/47,XX,+21

46,XY/47,XY,+13
Preparation paper for test I, HG, 2015 Page 5 of 6

6. Methods of Chromosomal analysis:

Method Analyzed Stages of analysis Type of Applications
biological identified
material abnormalities
Homogeneous
painting
Giemza
Differential
painting G, Q,
R

Differential
painting C, T

FISH

Test Barr

Test F
Preparation paper for test I, HG, 2015 Page 6 of 6
7. Analyze the karyotypes (for Barr and F body tests show the number of bodies and their dimensions):
Karyotypes Describe the formula Error Phenotype Barr F Test
Test
45,X
47,XYY
48,XXYY
46,XY,16qh+
46,XX,1qh-
46, XY, del(21p)
46,XY,inv (3)(q12.1q34.3)
69,XXY
45,XY,-7
48,XXXX
46,XY,dup(5p)
46,XY, 14q+
46,XY, 14q-
46,XY, 14p-
46,XX,9 ph+
46,XY,i(21p)
46,XY,i(21q)
46,XY,i(8p)
46,XY,i(8q)
46,XY,del (14)(q32.2q34.1)
46,X,r(X)
46,X,i(Xp)
46,X,i(Yp)
46,X,i(Yq)
47,X,iX(p),Y
47,XX,i(Yq)
46,XX/47,XX,+21
45,X / 46,XX
46,XY / 47,XXY