1. Practical 1 Organization Introduction to clinical genetics
and cytogenetics Microscopes
2. Fill the presence cards
Put down your name, family name, number of your group, your
home address and address in Prague.
In the vacant space join your mobile phone number or e-mail
address.
The card will be used for registration of your presence, test
results and exams.
3. Organization
4. Institute of biology and medical genetics
Dr. Eduard Korek, Vra Tmov
[email_address]
My phone (Motol hospital): 224 435 980
Mrs. Tmov : 257 296 151
Secretary of the institute Motol hospital, Pediatric clinic, 4
th floor part G
5. Practical in medical biology
is organized in the building of theoretical and preclinical
institutes (Plzesk) in the lecture room of the Institute of
biology
Don't be late, please!
No breaks during practicals.
6. Requirements for getting a credit
Maximum two unjustified absences
Further absence could be tolerated only under serious reasons
and with relevant certificate.
Lack of discipline or lack of basic knowledge can result in
suspension from the practical and unjustified absence.
Any type of absence lead to lack of points due to a missed
test.
Minimum 80% of maximal possible yield for the tests
In most of practicals students will take a written test.
Irrespective of the number of question in the test, students
will be able to obtain maximum 10 points for each test.
The point yields will be summed up at the end of the
Maximum five extra points could be obtained for an oral
presentation.
Presence in the credit practical no absences are allowed
7. Students not fulfilling requirements
will be subjected to a oral test in the last practical or on
another occasion ( after negotiation with examiner )
In case of failure student can repeat this oral test for two
times.
Students without credit will not be allowed to continue in
studies in the second year.
8. Recommended textbooks
Passarge E.: Color Atlas of Genetics. Georg Thieme Verlag,
Stuttgart New York, 1995
Mange E. J., Mange A. P.: Basic Human Genetics. Sinauer
Associates Inc., Sunderland, Massachusetts, 1999
Nussbaum R. L., McInnes R. R., Willard H. F.: Thompson &
Thompson Genetics in Medicine. W.B.Saunders Company, Philadelphia,
Pennsylvania, 2001
9. Since the next week my presentations will be available on
www:
http://camelot2.lf2.cuni.cz/turnovec/ublg/vyuka/
10. Please fill the sheets on your tables.
11. Introduction to clinical genetics and cytogenetics
12. Origin of the genetically conditioned disorder DNA RNA
protein Phenotype (trait, feature) Change in the DNA sequence,
chromosomal aberrations Change in the gene expression, synthesis of
abnormal RNA molecule Change of enzyme activity, defects of the
cell and tissue structure Change of function and structure of
organs, inborn metabolic errors, developmental defects
mutation
13. Medical examinations of genetic disorders. patient family
genealogic examination chromosomes cytogenetic examination DNA
molecular biological examination
14. The basis of the cytogenetic examination is chromosomal
analysis.
15. Chromosome short (p-) arm long (q-) arm centromere
chromatid telomere telomere repetitive (satellite) sequence DNA
repetitive sequence (TTAGGG) n repetitive sequence (TTAGGG) n
DNA
16. Telomeres of human chromosomes
17. Chromosome X chromatid DNA synthesis (replication) DNA
chromosome 1 chromatid = 1 DNA molecule
18. Types of chromosomes metacentric (mediocentric)
submetacentric ( sub mediocentric) acrocentric telocentric
satellites (don't confuse with satellite DNA)
19. Staining and observation of chromosomes, microscopes
20. Task 1: Name all parts of the microscope indicated on the
picture . 1 2 4 5 6 3 eyepiece objective lens stag e condenser
coarse adjustment fine adjustment
21. Stereomicroscope
22. Stereomicroscopes equipped with cold light sources
23. Measuring of microscopic objects in the optical microscope
(eyepiece scale, micrometer)
24. Objective scale
25. Measuring of microscopic objects (blood elements) in the
optical microscope
26. Staining of chromosomes
Giemsa-Romanowski (Wright stain)
Hematoxylin
Acetocarmin
Acetoorcein
Fuchsin Feulgen's reaction
27. Giemsa staining (= solid or conventional staining)
leucocytes chromosomes
28. Task 2: Observation of human chromosomes
The slides were obtained from human peripheral blood
lymphocytes.
The blood was cultivated in the medium. Under cultivation
conditions cell division was induc ed.
The cell suspension was fixed a dropped onto slides and then
stained with Giemsa-Romanowski solution.
29. Observation of chromosomes
Observe the slide under low magnification (objective 4x or
10x).
Find chromosome spread (a group of chromosomes representing
nucleus of one cell) and observe it under higher magnification (40
or 45x). Be careful when focusing the slide must not be
broken!
Compare the microscopic observation with adjacent picture of
chromosomes. Try to determine the total number of chromosomes in a
human somatic cell.
30. Task 3 (see the picture of chromosomes): The picture shows
human chromosomes stained by the Giemsa method (such called solid
staining). A) Which chromosomes you can observe in the picture:
one-chromatid or double-chromatid? B) Determine types of
chromosomes. C) How much chromosomes are present in a human somatic
cell?
31. large metacentric small metacentric large acrocentric small
acrocentric t he rest submetacentric chromosomes
32. 14 8 10 14 14 + 8 + 14 + 10 = 46 Total number of
chromosomes: 46
33. Fluorescent microscope Principal of fluorescence:
excitation of electron
34. Scheme of fluorescent microscope mercury burner filter
slide observation
