Biology and Genetics II - EA0903003

• Title: Biology and Genetics II
• Guaranteed by: Ústav biologie (14-30)
• Faculty: Faculty of Medicine in Pilsen
• Actual: from 2020
• Semester: winter
• Points: 5
• E-Credits: 5
• Examination process: winter s.:
• Hours per week, examination: winter s.:2/2, C+Ex [HT]
• Capacity: unlimited / unlimited (unknown)
• Min. number of students: unlimited
• 4EU+: no
• Virtual mobility / capacity: no
• State of the course: taught
• Language: English
• Teaching methods: full-time
• Teaching methods: full-time
• Note: deregister from the exam date if a requisite was not fulfilled; for a repeated registration for Course credit + Exam, the student must have the Course credit exam passed
• Guarantor: doc. RNDr. Martin Pešta, Ph.D.
• Teacher(s): Mgr. Bc. Tereza Knížková; doc. MUDr. Marie Ludvíková, Ph.D.
• Co-requisite : EA0901002, EA0901010, EA0902001
• Is co-requisite for: EA0906100, EA0906470
• In complex pre-requisite: EAV030X04

Annotation

The aim of the course of Biology and Genetics is to provide the students with the essential knowledge on cellular and molecular biology and genetics. The accent is put on the pathobiological processes and human biological and genetic variations as they relate to health and disease, causes and inheritance of genetic disorders and the application of the basic principles of biology and genetics to medicine and to the study of subsequent subjects in the Dentistry study program.

Last update: Křížková Zdenka (14.11.2017)

Course completion requirements

Completing a subject:

• Sommer and winter semester credits (each credit test is limited by one regular and two re-credit terms) obtained by the end of  the examination period

• Final exam passed till the 15th of September 2025 (Detailed information about the final exam: See  …)

Winter semester credit:

• Regular attendance at practical training

• All credit tests passed

• According to the teacher's requirements: lab protocols written and handed over to the teacher till the deadline

Sommer semester credit:

• Regular attendance at practical training

• All credit tests passed

• According to the teacher's requirements: Solved tasks in the manual (Each student is due to print this manual from intranet pdf-file at the beginning of the semester)

Information for students with learning disabilities, etc.: inform your teachers at the beginning of the year/semester; later requirements (during the day of test/exam) cannot be taken into account

Last update: Ludvíková Marie, doc. MUDr., Ph.D. (18.09.2024)

Literature

Literature:

 Compulsory:

1. Young I.D: Medical genetics. Oxford University Press 2005

 Recommended:

1. Jorde L.B, Carey J.C: Bamshad M.J.: Medical Genetics. Mosby Elsevier, 2010

2. Cagle P.T., Allen T.C.: Basic Concepts of Molecular Pathology. Springer 2009

Last update: Křížková Zdenka (14.11.2017)

Requirements to the exam

Final Exam – Biology

• Conditions: winter and summer credits

• Student has to register (after obtaining both credits) in SIS for the final exam

• Registered students can unsubscribe from this exam till the deadline specified in SIS for every term; In case of unexpected serious reasons (after this deadline) students are allowed to send their explanation and apologize for that term by e-mail to their teacher or examiner and department secretary: Mrs. Zdenka Křížková: [e-mail], before the exams starts.

• In case the student does not appear and does not apology from his term before the exam starts, the term fails

• Final exam consists of:

  • Written part – TEST (students need their own calculator)

  • Oral part including questions from biology and genetics

• Written part of the test takes place at the Department of Biology (unless otherwise specified) ; the oral part takes place at the Department of Biology (unless otherwise specified) and in some cases (e.g. high number of students) can be postponed to the following day

• Final exam result includes both written and oral parts

• Syllabus (List of potential questions) is available on: https://ustav-biologie-lf-uk-v-plzni.webnode.cz/vyuka/syllaby/ and on the MOODLE

Last update: Ludvíková Marie, doc. MUDr., Ph.D. (18.09.2024)

Syllabus

Syllabus of Lectures on Genetics

1. History of genetics in light of contemporary knowledge (J.G.Mendel, T.H. Morgan, O. Avery, J. Watson, F. Crick, J. Monod etc.). Structure of human genome. Human Genome Project (HGP) – mapping of DNA. Nuclear genome. Gene and non-gene areas of DNA. Repetitive segments of DNA. Mobile elements of human genome. Mitochondrial genome. 

2. Changes in genetic information. Gene mutations and their classification. Dynamic mutations. DNA polymorphisms. Types of DNA polymorphisms and their significance.

3. Process of mutagenesis. Mutagenes (chemical, physical, biological). Spontaneous and induced mutations and their mechanisms. DNA repair system. Selected syndromes associated with the altered DNA repair. 

4. Structural and numerical abberation of chromosomes. Mechanisms and consequencies of the chromosomal alterations. Robertsonian translocation. Basis of clinical cytogenetics. Methods of clinical cytogenetics. Inactivation of X-chromosome. Genomic imprinting. 

5. Mendelian inheritance - Mendel´s laws. Monogenic inheritance and its types. Autosomal and gonosomal disorders. Atypical patterns of inheritance. Gene linkage and mapping. Gene interactions. 

6. Polygenic and multifactorial inheritance. Quantitative and  qualitative traits. Genetic analysis of quantitative traits. Association studies. Twins studies. Heritability. Genetics of complex diseases.

7. Genetic disaeses. Molecular and biochemical basis of genetic disorers. Hemoglobins and hemoglobinopathies. Inborn errors of metabolism. Selected enzymopathies. Receptors and disorders of their function. Familial hypercholesterolemia. Disorders of molecular transport. Cystic fibrosis. Disorders of cell structure. Duchenne muscular dystrophy. 

8. Immunogenetics. Mechanisms of immune response. Structure of molecule of immunoglobulins. Genetic basis of immunoglobulin diversity. Somatic rearrangements. Allelic exclusion of imunoglobulin genes. Immunoglobulin isotype switching. T-cell antigen receptors.  Major histocompatibility antigens. Classes of MHC.  Polymorphism and inheritance of HLA haplotypes. HLA disease associations.

9. Genetic aspects of ontogenesis. Fertilisation. Differentiation of cells and tissues. Genes and gene expression during ontogenesis. Structure and function of HOX genes. Stem cells. Cancer stem cells. Developmental genetics and malformations. Reproductive genetics. Determination of sex in human beings.

10. Molecular basis of cancer I. Biology of neoplastic growth. Tumor microenvironment. Cancer energy metabolism.Warburg effect. Genetic basis of cancer. Cancerogenesis. 

11. Molecular basis of cancer II. Protooncogenes and their role in regulation of cell division.  Oncogenes and oncoproteins. Tumor supressor genes. Mutations of tumor supressor genes. Characteristics of selected tumor supressor genes. Mutator genes. Epigenetics of tumors.  Hereditary and sporadic cancer.

12. Farmacogenetics – farmacogenomics. Nutrigenetics - nutrigenomics. Farmacogenetic interactions. Methods and significance of farmacogenomics. Nutrigenetic interactions. Nutrigenomics: goals and strategies.

13. Genetics of orofacial region. Genes involved in tooth development. Genetic disorders of orofacial region – tooth agenesis, structural tooth defects, clefts, syndromes associated with orofacial defects. Types of inheritance of genetic orofacial disordes. Methodology of study in orofacial genetics. 

14. Methods in genetics – overview. Methods of study of nucleic acids. Methods of study of genes. Methods of study of chromosomes. Methods and principles of molecular diagnostics. Direct and indirect DNA diagnostics. 

15. Selected topics in medical genetics. Genetic counceling. Genetic prognosis.Prenatal genetic testing. Potencial treatment of genetic diseases. Ethical and legal issues in medical genetics.

 -------------------------------------------

 

Syllabus of PRACTICALS on Genetics

 

Topics: 3rd semester - GENETICS

1. Molecular genetics

Types of mutations (deletion, insertion, duplication, substitution; non-sense/miss-sense mutations, null mutations; frame shift mutations and in frame mutations), mutations in coding and non-coding sequences; Genetic code; Codone; Replication, Transcription, Translation; SNP 

2. Mendelian genetics

Mendel’s laws; P, F1 and F2 generations; Segregation ratios; Genotype; Phenotype Monohybridism and polyhybridism; Codominance, incomplete and complete dominance; Recessiveness; Back cross; Lethal genes; Punnett square; Forked-line method; Imprinting

7. Gene linkage 

Linkage of genes, Morgan; Gene maps; Segregation ratios; Lod Score; Three-point test cross

6. Heredity and sex

X and Y chromosomes; X-inactivation (dose compensation); Sex-linked inheritance (gonosomal dominant and recessive traits); Pseudoautosomal inheritance; Pseudodominance; Hemizygotes; Sex-influenced and sex-limited inheritance; Examples

5. Gene interactions and  Complex inheritance

Basic types of gene interactions (epistasis, complementarity, gene duplicity/multiplicity…);  Polygenic inheritance; Quantitative traits; Heritability; Twins studies; Edwards formula; Relative risk; Heredity and quantitative traits; Selected examples of complex human disorders

8. Genealogy

Genealogy schemes (pedigrees) – drawing and analysis; Symbols and rules used; Autosomal dominant and recessive inheritance; X-linked dominant and recessive inheritance; Y-linked inheritance; sex-influenced inheritance; Mitochondrial inheritance; Incomplete penetrance and genetic heterogeneity; Expressivity

9. Multiple allele 

Multiple alleles; Immunogenetics; Antigen; Antibody; Examples; ABO, H, Se, Rh blood group systems; HLA alleles 

10. Population genetics

Allele frequencies; Hardy-Weinberg law, and its definition criteria; Gene pool; Panmixia; Linkage disequilibrium; Forces changing allelic frequencies; Genetic drift, selection, migration, new mutations; Heterozygotic advantage; Examples: human monogenic traits/diseases

12. Genetic prognosis 

Genetic prognosis; Penetrance; Expressivity; Coefficient of kinship; Coefficient of inbreeding; Risk calculation

13. DNA diagnostics

DNA denaturation, hybridization; DNA probes;  Genetic markers; Direct and indirect DNA-diagnostics; Restriction endonucleases; RFLP; Electrophoresis; DNA amplification; PCR; Southern blotting; Genomic probe; Reverse transcription; Northern blotting; Western blot;    Insertion polymorphism; Microsatellites; Trinucleotide expansions; Prenatal diagnostics.

13. Selected issues in cancer genetics

Cancer; oncogene; protooncogene; Tumour suppressor gene; Comparative genomic hybridization; Gene expression profiling; Examples

14. Basics of statistics

Population; Probability distribution; Variability; Descriptive statistics; Point estimation; Estimation by confidence intervals; Hypothesis testing; Coefficient of variation; Box-plot; Parametric tests; Nonparametric tests; Chi - square test

 

Last update: Ludvíková Marie, doc. MUDr., Ph.D. (18.09.2024)

Course completion requirements

Completing a subject:

• Sommer and winter semester credits (each credit test is limited by one regular and two re-credit terms) obtained by the end of  the examination period

• Final exam passed till the 15th of September 2025 (Detailed information about the final exam: See  …)

Winter semester credit:

• Regular attendance at practical training

• All credit tests passed

• According to the teacher's requirements: lab protocols written and handed over to the teacher till the deadline

Sommer semester credit:

• Regular attendance at practical training

• All credit tests passed

• According to the teacher's requirements: Solved tasks in the manual (Each student is due to print this manual from intranet pdf-file at the beginning of the semester)

Information for students with learning disabilities, etc.: inform your teachers at the beginning of the year/semester; later requirements (during the day of test/exam) cannot be taken into account

Last update: Ludvíková Marie, doc. MUDr., Ph.D. (18.09.2024)