LECTURE (content units)

No. hours

LECTURE

28  hours

C1. INTRODUCTION TO MEDICAL GENETICS. Definition and objectives of medical genetics.

DNA - THE CARRIER OF GENETIC INFORMATION. HUMAN CHROMOSOMES. Primary structure of nucleic acids. Secondary structure of DNA. Physical properties of DNA. Organisation of DNA in the nucleus. Chromatin. Morphogenesis of metaphase chromosomes.

2 hours

C2. HUMAN GENOME. GENE STRUCTURE. DNA REPLICATION. Structure of the human genome. Structure of protein-coding genes. Enzymes involved in DNA replication. Mechanism of DNA replication. 

2 hours

C3. EXPRESSION OF GENETIC INFORMATION. DNA REPLICATION. Transcript. Maturation of precursor mRNA. Regulation of gene expression.

2 hours

C4. GENETIC VARIABILITY. GENE MUTATIONS. MECHANISMS OF DNA DAMAGE REPAIR. Genetic recombination. Classification of mutations. Gene mutations: substitution, deletion, insertion. DNA damage repair systems. Examples of diseases caused by deficiencies in repair mechanisms.

2 hours

C5. TRANSMISSION OF MONOGENIC TRAITS. Mendelian laws of heredity. Transmission of monogenic characters. Autosomal dominant transmission. Autosomal recessive transmission. X-linked recessive transmission. X-linked dominant transmission

2 hours

C6. AUTOSOMAL MONOGENIC DISEASES. Autosomal dominant transmission diseases: Marfan syndrome, achondroplasia, neurofibromatosis type I, familial hypercholesterolemia, imperfect osteogenesis, autosomal dominant polycystic kidney disease. Autosomal recessive transmission diseases: phenylketonuria, albinism, cystic fibrosis, sickle cell disease, hemochromatosis, lysosomal diseases.

2 hours

C7. SEX-LINKED MONOGENIC DISEASES. X-linked recessive transmission diseases: Duchenne muscular dystrophy, Becker muscular dystrophy, haemophilia A, haemophilia B, colour blindness. X-linked dominantly transmitted diseases: hypophosphatemic rickets, Incontinentia pigmenti, Rett syndrome..

2 hours

C8. CHROMOSOMAL DISEASES. Autosomal diseases: Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18) Sex chromosome diseases: Turner syndrome (monosomy X), Klinefelter syndrome (trisomy XXY), Trisomy X (triple X syndrome), Trisomy XYY. 

2 hours

C9. DELETION AND MICRODELETION SYNDROMES. NON-MENDELIAN MONOGENIC INHERITANCE: UNIPARENTAL DISOMY. GENOMIC FINGERPRINTING. Cri du chat syndrome, Wolf-Hirschhorn syndrome, velo-cardio-facial syndrome, Williams syndrome. Beckwith-Wiedemann syndrome. Prader-Willi syndrome, Angelman syndrome.

2 hours

C10. DYNAMIC MUTATIONS. Characteristics of dynamic mutations. Diseases caused by dynamic mutations: Fragile X syndrome, Huntington's disease, myotonic dystrophy. Friedreich's ataxia 

GENETIC HETEROGENEITY.  Locus heterogeneity. Allelic heterogeneity. Clinical heterogeneity

2 hours

C11. MITOCHONDRIAL GENOME. The mitochondrial genome. mtDNA replication. Mitochondrial transcription and translation. Mutations and mitochondrial pathology. Mitochondrial diseases

2 hours

C12. MULTIFACTORIAL HEREDITY. MULTIFACTORIAL DISEASES. Characteristics of multifactorial inheritance. Multifactorial diseases.

CONGENITAL ANOMALIES. Classification of birth defects.Causes of birth defects.

2 hours

C13. NORMAL AND PATHOLOGICAL SEXUALISATION. Genes involved in sexualisation. Abnormalities of sexual development.

2 hours

C14. CANCER. Genes involved in cancer development. Hereditary cancers

2 hours

BIBLIOGRAPHY

1. Lecture taught

2. Mircea Covic, Dragos Stefanescu, Ionel Sandovici, Eusebiu Vlad Gorduza (editori). Genetică Medicală, Editura Polirom, 2017, Ed. a III a.

3. Nussbaum R, McInnes R, Willard H. Thompson & Thompson Genetics in Medicine, 8th Edition, Elsevier, ediția în limba română, Ed.Hipocrate 2018.

4. Turnpenny P, Ellard S. Emery’s Elements of Medical Genetics, 15th Edition, Elsevier, 2017.

PRACTICAL WORK (topics/themes)

No. hours

PRACTICAL WORKS

28 hours

Lp 1. Morphology of human metaphase chromosomes

2 hours

Lp 2. Techniques used to prepare human chromosomes

2 hours

Lp 3.  Cell cycle. Mitotic division

2 hours

Lp 4.  Meioza

2 hours

Lp 5. Human chromosome banding techniques

2 hours

Lp 6. Normal human karyotype

2 hours

Lp 7. Numerical chromosomal abnormalities

2 hours

Lp 8. Structural chromosomal abnormalities

2 hours

Lp 9. Inheritance of normal monogenic traits

2 hours

Lp 10. Family tree (pedigree). Autosomal transmission

2 hours

Lp 11. Pedigree.Sex-linked transmission. Mitochondrial transmission

2 hours

Lp 12. Tcytogenetic and molecular genetic techniques used in the diagnosis of genetic diseases

2 hours

Lp 13. Prenatal genetic screening and diagnosis

2 hours

Lp 14. Genetic counselling and advice. Refaceri

2 hours

BIBLIOGRAPHY

1. Discipline protocols

2. F. Burada. Principii şi aplicaţii practice în genetica medicală. Ed Sitech, 2018.

3. Mircea Covic, Dragos Stefanescu, Ionel Sandovici, Eusebiu Vlad Gorduza. Genetică Medicală, Editura Polirom, 2017, Ed. a III a.

4. Nussbaum R, McInnes R, Willard H. Thompson & Thompson Genetics in Medicine, 8th Edition, Elsevier, ediția în limba română, Ed.Hipocrate 2018.

5. Turnpenny P, Ellard S. Emery’s Elements of Medical Genetics, 15th Edition, Elsevier, 2017.