Medical genetics and molecular diagnostics B-BMOL.027
Laboratorium (LB) Semestr zimowy 2025/2026

"Genetics in Medicine" Nussbaum RL McInnes RR Willard HF Hamosh A Thompson MW. Thompson & Thompson. Elsevier (7th ed. 2007; 8th ed. 2015)

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)

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.