Test questions for Bi7291en Human Genetics 1) Middle age theories of genetics 2) Mendel ´s CV 3) Monohybrid crossing 4) Reciprocal crossing 5) Dihybrid crossing 6) Molecular basis of Mendel´s laws 7) Heredity of sexuality and sex-linked traits 8) Rules of sex-linked inheritance 9) Human sex linked traits and heredity 10) Exceptions from Mendel´s ratios 11) Central dogma of molecular biology 12) Proof of DNA as a carrier of genetic information 13) Watson-Crick model of DNA 14) In situ hybridization 15) DNA sequencing principles 16) PCR method 17) Massive parallel sequencing 18) Human genome project 19) 1000Genomes project 20) Development of human cytogenetics 21) Chromosomes and DNA 22) Human karyotype 23) Stratification of human chromosomes 24) Microscopic and submicroscopic structure of chromosomes 25) Morphology of chromosomes 26) Chromosome staining 27) Metaphase detection techniques 28) Techniques of molecular cytogenetics 29) Structural, numerical aberrations 30) Translocations 31) Origin of aneuploidies 32) Trisomic syndromes 33) Gonosome syndromes 34) Structural variability of chromosomes 35) Molecular mechanisms of creation of structural chromosomal aberrations 36) Reparation mechanisms of DNA breaks 37) Microdeletion syndromes 38) Genomic imprinting 39) Duplication and their pathological effects 40) Marker chromosomes 41) Genetic significance of inversions 42) Congenital reciprocal translocations in humans 43) Problems of genetic studies in humans 44) Variability of human genome 45) Genetically determined pathologies in humans 46) Genetic counselling 47) Monogenic diseases 48) Autosomal dominant inheritance and human diseases 49) Autosomal recessive inheritance and human diseases 50) Genetic basis of cystic fibrosis 51) Examples of X-linked recessive inheritance diseases in humans 52) Development of human oncogenetics 53) The origin of the Philadelphia chromosome 54) The role of cytogenetic testing in oncology 55) Clonal CHAs in tumors 56) Genome destabilization and the multistep process of tumor formation 57) Protoncogens vs tumor suppressor genes 58) Chromosomal aberrations in tumors - basic classification 59) Numerical CHAs in tumor diseases 60) Translocations and tumors 61) Translations associated with creation of chimeric proteins 62) Translocations associated with protooncogen activation 63) Involvement of IgH locus 14q32 in cancer diseases 64) Chromosomal deletions in the process of carcinogenesis 65) Knuston hypothesis 66) Aberrations with gain of genetic material 67) Double minute chromosomes 68) Chromothripsis and tumor diseases 69) Prognostic changes of chromosomal aberrations associated with negative prognosis in hematoncologic malignancies 70) Prognostic changes of chromosomal aberrations associated with negative prognosis of solid tumors 71) Personalized medicine and genetics 72) Assisted human reproduction (AHR) 73) Genetic causes of male and female infertility 74) Methods of AHR 75) IVF cycle, Chromosomal aberrations in embryos 76) Preimplantation genetic analyses 77) Embryo biopsy difference 78) Vitrification 79) Problems of PGA 80) Karyomapping 81) Massive parallel sequencing technology (MPS) in IVF