Human genetics WB-BI-42-15cw

A course of “Human genetics” includes topics on the history of the most important discoveries for the development of knowledge on inheritance in men. The types of messengers of human genetic information, with respecting of DNA and RNA structures. The processes related to gene expression are also discussed (transcription, types and structures of transcription factors, splicing, translation), as well as factors involved in regulation of gene expression.
The structure of human genome is reviewed. Some lectures are focused on mutations (types of mutations, mutagenic factors, repairing processes) and polymorphisms. Methods used for the assessment of mutation pathogenicity including those based on the use of genetic and proteomic databases, are discussed. Genetic diseases, including: monogenic diseases, polygenic diseases, multifactorial disorders, as well as the types of inheritance, are presented.
The course includes also the topics on gender determination as well as types of disease inheritance. Pleiotropy, redundance, genetic and allelic heterogeneity are reviewed.
Issues related to strategies used to identify genetic variants related to inheritant diseases (strategies from protein to gene, from gene to protein, genetic markers - candidates, analysis of markers overlapping the whole genome (GWAS; Genome – Wide Association Study); project HapMap]), are also included in the course of lectures.
Separate talks are focused on the topics of genetic screening (investigation of carriership, analysis of predisposition, genetic conselling).
The problems of tumour genetics, as well as relevance of genetics in judiciary, are presented.
At the end of the course the new discipline of genetic science is presented, i.e. epigenetics. The most important discoveries in this area are presented, including the role of epigenetic processes in chromosome X inactivation and paternal gene imprinting, as well as the involvement of epigenetic phenomena in tumorigenesis.