GENETICS PROGRAM - Faculty of Medicine
Genetics is a compulsory core subject for students in the second year of the Faculty of Medicine, the total number of hours in the curriculum is 56, of which 28 hours lecture/semester (2 hours/week) and 28 hours laboratory (2 hours/week).
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
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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
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