Medical genetics and molecular diagnostics
Informacje ogólne
Kod przedmiotu: | B-BMOL.027 |
Kod Erasmus / ISCED: | (brak danych) / (brak danych) |
Nazwa przedmiotu: | Medical genetics and molecular diagnostics |
Jednostka: | Wydział Biologii i Biotechnologii |
Grupy: |
Przedmioty do wyboru - moduły I i II w semestrach 3 i 4 |
Punkty ECTS i inne: |
4.00
|
Język prowadzenia: | angielski |
Wymagania wstępne: | (tylko po angielsku) Passed course in genetics, genetic engineering and molecular biology |
Godzinowe ekwiwalenty punktów ECTS: | (tylko po angielsku) Hours with the participation of the academic teacher (contact hours): lecture 15 laboratory 30 total number of hours with the participation of the academic teacher 45 Non-contact hours (students' own work): student preparation for classes 10 student preparation for tests and exam 25 student studying the course literature 20 total number of non-contact hours 55 Total number of hours for the module: 100 Total number of ECTS credits for the module: 4 |
Sposób weryfikacji efektów kształcenia: | (tylko po angielsku) Means of verification of learning outcomes approved on the basis of the Resolution of the Senate of the Maria Curie-Skłodowska University No. XXV – 16.11/22 of 02.04.2022, i.e. from the learning cycle 2022/2023: lecture - written test (pass with grade) (W1-W4, U1-U2, K1-K2) laboratory - continuous assessment of activity and mid-semester colloquia (W1-W4, U1-U4, K1-K4) |
Pełny opis: |
(tylko po angielsku) LECTURE Genetics and genomics in medicine: human genome; chromatin and chromosomes; cell divisions; karyotype; human gametogenesis and fertilization; medical relevance of mitosis and meiosis; human genes organization and structure; fundamentals of gene expression and regulation; variation in gene expression and its relevance to medicine. Mutations and their consequences: types and mechanisms of mutations; how environmental factors and chemicals cause mutations; consequences of mutations; effects of mutations on gene expression. Types of inheritance: mendelian and modified mendelian (with affecting factors), mitochondrial, multifactiorial; molecular basis of genetic diseases; molecular pathology in recessive and dominant inheritance; examples of human diseases due to mutations in different classes of proteins. Tools in human molecular genetics. Genetic testing: molecular, chromosomal and biochemical genetic tests; benefits and drawbacks of genetic testing; examples of genetic testing results. Principles of clinical cytogenetics: chromosome abnormalities; studies of chromosomes in human mitosis and meiosis - classical cytogenetic methods; chromosomal disordes; mendelian disorders with cytogenetic effects; molecular cytogenetic methods; cytogenetic analysis in cancer. LAB Application of PCR-RFLP and sequencing of PCR products in the study of polymorphism of the gene encoding the estrogen receptor ESR-1. VKORC1 genotype analysis - determination of warfarin sensitivity by allelspecific PCR and sequencing. Analysis of tetranucleotide repeat number polymorphism (TTTA)n in the CYP19 gene. Sex detection using PCR targeting the amelogenin gene. |
Literatura: |
(tylko po angielsku) "Genetics in Medicine" Nussbaum RL McInnes RR Willard HF Hamosh A Thompson MW. Thompson & Thompson. Elsevier (7th ed. 2007; 8th ed. 2015) |
Efekty uczenia się: |
(tylko po angielsku) Learning outcomes approved on the basis of the Resolution of the Senate of the Maria Curie-Skłodowska University No. XXV – 16.11/22 of 02.04.2022, i.e. from the learning cycle 2022/2023: Knowledge W1.The graduate knows and understands the different types of inheritance of genetic diseases and understands the level of risk in these diseases (K_W01, K_W02) W2.The graduate knows and understands the differences between genetic diseases at the molecular level and the sources of heterogeneity in genetic diseases (K_W01, K_W02) W3.The graduate knows and understands the possibilities of using the achievements of genetics in medical diagnosis (K_W04, K_W05) W4. Graduate knows and understands contemporary techniques used in genetic diagnosis (K_W04) Skills U1. The graduate is able to propose a course of action in diagnosis: from phenotype to molecular diagnosis (K_U02, K_U03) U2. The graduate is able to select appropriate molecular techniques for verification of clinical diagnosis or screening (K_U02, K_U03, K_U06) U3. The graduate is able to perform basic diagnostic tests for point mutation detection and screening ( K_U06) U4. The graduate is able to interpret the result of molecular analysis in a specific diagnostic context (K_U05, K_U06) Social competences K1. The graduate is ready to critically evaluate the value of diagnostic tests (K_K03) K2.The graduate is ready to recognise the importance of the heterogeneity of genetic diseases for the success of diagnosis (K_K03) K3. The graduate is ready to recognise the importance of molecular diagnostics in the diagnosis of genetic diseases (k_K01, K_K03) K4.The graduate is ready to behave ethically in molecular medical diagnostics (K_K06) |
Zajęcia w cyklu "Semestr zimowy 2023/2024" (zakończony)
Okres: | 2023-10-01 - 2024-02-04 |
Przejdź do planu
PN WT ŚR CZ PT |
Typ zajęć: |
Laboratorium, 30 godzin
Wykład, 15 godzin
|
|
Koordynatorzy: | Małgorzata Marczak | |
Prowadzący grup: | Małgorzata Marczak, Magdalena Wójcik | |
Lista studentów: | (nie masz dostępu) | |
Zaliczenie: |
Przedmiot -
Zaliczenie na ocenę
Laboratorium - Zaliczenie na ocenę Wykład - Zaliczenie |
Zajęcia w cyklu "Semestr zimowy 2024/2025" (zakończony)
Okres: | 2024-10-01 - 2025-02-03 |
Przejdź do planu
PN WT ŚR CZ PT |
Typ zajęć: |
Laboratorium, 30 godzin
Wykład, 15 godzin
|
|
Koordynatorzy: | Małgorzata Marczak | |
Prowadzący grup: | Małgorzata Marczak, Magdalena Wójcik, Kamil Żebracki | |
Lista studentów: | (nie masz dostępu) | |
Zaliczenie: |
Przedmiot -
Zaliczenie na ocenę
Laboratorium - Zaliczenie na ocenę Wykład - Zaliczenie |
Właścicielem praw autorskich jest Uniwersytet Marii Curie-Skłodowskiej w Lublinie.