Total number of hours (semester) in the

educational plan (84 semester I)

DISCIPLINE FILE
Name of the discipline

MEDICAL GENETICS
I

Year of study

II

semester *

Type
S of the final evaluation (E/ V/C)
A

Disciplines type (Co - compulsory)

Total number of hours in the
educational plan
Disciplines titular
Faculty
Department

84

Total hour of individual

study

Co

Number of credits

140

Total number of
hours per semester

224

Conf. Dr. EUSEBIU VLAD GORDUZA

Medicine
Mother and child medicine

Profile

Medicine

Specialization

Medicine

Total

C**

84

28

56

** C course, L laboratory activities, P

project or practical works

Minimum knowledge requirements for students in order to attend lectures/ practical lessons
Notions of probabilistic calculation, minimum knowledge of cell biology, embriology, biochemistry
Disciplines objective
1. Fundamentals of human genetics
2. Clinical genetic elements
3. Skills necessary to apply knowledge of current practice in medical genetics
Course content - Curriculum 28 hours
I. HUMAN GENETICS AND ITS ROLE IN MEDICINE
A. Human Genetics content.
B. Human, heredity and environment.
II.DNA STRUCTURE AND CELLULAR ORGANISATION
A. DNA molecular substrate of heredity.
B. DNA structure.
C. Nuclear genome
D. Mitochondrial DNA

Nr. ore
1

III. GENE STRUCTURE, LOCALIZATION AND IDENTIFICATION

A. Classical theory on gene structure.
B. Actual theory on gene structure
C. Gene isolation, cloning and analysis. (recombinant DNA technology)
D. Gene localization principles of gene mapping
IV. GENETIC INFORMATION EXPRESSION (GENE FUNCTION)
A. Classical theory on gene function
B. Actual theory on gene function.
V. INHERITANCE OF GENETIC INFORMATION
A. DNA replication.
B. Inheritance of monogenic traits
C. Polygenic/ multifactorial inheritance.
VI. GENETIC VARIABILITY
A. Definition. Sources.
B. Gene mutations.
VII. GENERAL DATA CONCERNING GENETIC DISORDERS
A. Heredity- environment interaction as cause of human disorders
B. Genetic disorders
C. Chromosomal disorders.
D. Monogenic disorders.
E. Molecular disorders
F. Multifactorial disorders
G. Developmental Genetics. Birth defects (congenital anomalies).
H. Inter-sexual states (ambiguous genitalia).
I. Cancer Genetics
J. Prevention of genetic disorders
K. Treatment of genetic disorders

14

Content of the laboratory activities Curriculum 56 ORE

WEEK I

Genetic apparatus of the cell. Cell cycle. Nucleus during cell division.
WEEK II

Mitosis. Meiosis. Division and recombination errors

WEEK III

Sexual chromatin
WEEK IV

Human chromosomes: methods to obtain chromosomes, identification.

WEEK V

Chromosomal abnormalities: classification, mechanisms, consequences

WEEK VI

Chromosomal syndromes. Indications for human chromosomes study

WEEK VII

Determinism of normal hereditary traits. Monogenic traits. Blood groups

WEEK VIII

Polygenic traits. Practical value of the study of normal hereditary traits.

WEEK IX
Genetic disorder. Genetic counselling. Family history

WEEK X

Monogenic disorders: characteristics, ways of transmission (autosomal dominant /

recessive disorders and X- linked disorders).
WEEK XI

Multifactorial disorders: characteristics, empirical risks. Hardy-Weinberg law

WEEK XII
Genetic counselling: aims and circumstances
WEEK XIII
Genetic counselling: genetic risk categories
WEEK XIV
Molecular diagnosis. Prenatal diagnosis. Neonatal screening

1.
2.
3.
4.
5.
6.
7.
8.

4
4
4

COMPETENCES:
Human karyotype: realization and interpretation;
Sex chromatin: realization and interpretation
Recognizing the most frequent chromosomal genetic syndromes
Genetic counseling in chromosomal genetic diseases
Paternity analysis
Realization of maternal-fetal and familial anamnesis and drawing the family pedigree
Recognizing the pattern of inheritance of monogenic hereditary diseases
Genetic counseling in monogenic diseases

For the establishment of the final grade the following are

taken in consideration
- answers in the written /oral exam (final examination)
ex practic

Weight in notation expressed in

percentage
(Total = 100%)
50%
35%

- final answers in the practical laboratory papers

- periodical testing through written paper
- continuous testing during the semester

15%

- activities such as homeworks/papers/essays/translation/

projects etc.
Practical type of the final evaluation: Exam from practical lessons and written exam
Test during the the semester (MSQ and exercises) 3 tests; Final practical exam 3 exercises
(chromosomal syndromes, normal monogenic traits, monogenic diseases); Final MSQ (60
questions)

Estimate the total time (hours per semester) of the activities of individual study required by the
student

1. Study of the course notes

15

8. Preparation for the oral

presentations

9. Preparation of the final exam

40

20

10. Consultations

11. Field research

14

12. Internet research

2. Study after the manual, course

support
3. Study of the minimal required
bibliography
4. Additional documentation in the
library
5. Specific preparation activity Seminar
and/or Laboratory
6. Doing homeworks, papers, essays,
translations etc.

20

13. Other activities

7. Preparation of the tests

15

14. Other activities

Total number of individual study ( per

semester) = 140

Bibliography:

1. Elements of medical genetics; Autor: Cristina Rusu; Editura: Tehnica-Info,

Chisanau, 2004
2. Medical Genetics Practical Lessons Autor: Cristina Rusu, Editura:
Performantica Institutul National de Inventica, Iasi, 2007

Bibliografie suplimentar
1. Ed Tobias, Michael Connor, et al.- Esential medical genetics, Oxford Press, 2011
2. Peter D Turnpenny BSc MB ChB FRCP FRCPCH (Author), Sian Ellard BSc PhD
MRCPath Emerys elements of medical genetics, Churchill Livingston Press, 2011
3. Robert Nussbaum MD (Author), Roderick R. McInnes MD PhD FRS(C) (Author),
Huntington F. Willard PhD (Author) Thompson and Thompson genetics in medicine,
WB Saunders Company, 2007
4 Guy Bradley-Smith (Author), Sally Hope (Author), Helen V. Firth (Author), Jane A.
Hurst Oxford handbook of genetics, Oxford university press, 2010
Filling in date:
11.10.2012

Signature of the titular: