Syllabus
1. Basic genetic informations.Biological organisation of human body, human genome, his structure and function. Basic genetic informations and symbols used in genealogic schemes. Mendelian inheritence, dominance and recessivity, gene linkage and gene interactions. Factors influencing „mendelian“ phenotype ratio (lethal allele, incomplete dominance, codominance,, dominant and recessive epistasis, penetrance, expressivity, pleiotropic effect, phenocopy, genetic heterogeneity).
2. Molecular bases of inheritence. Functional groups of biomacromolecules, nucleic acid structure, types of chemical bounds in nucleic acid molecule. Gene structure, intron-exon gene organisation, genetic code, human genes and mutations. Different types of mutations, practical cases of different types of mutations. Basic information about terms: mutations, balanced polymorphisms and polymorphisms. Biological, chemical and physical causes of mutation. Mutation class incidence in human genome. Localization of different types of mutations and their influence on gene function.
3. Chromosomal organisation of human genome. Human chromosome anatomy, human karyotype organisation, human mitochondrial DNA structure, chromosomal topography from DNA duplex to metaphasic human chromosome. Karyotyping – cytogenetic banding of human chromosomes, chromosomal structure and function correlation, nucleosome structure, cell cycle, cell division, human gametes formation: spermatogenesis and oogenesis. Nomenclature of human chromosomal abnormalities in karyotype. Human numeric and structural aberrations. Mechanisms of aberration development: nondisjunction, uniparental disomy, X-chromosome inactivation etc.
4. Human genome studies: individual and pedigree levels Three types of Mendelian inheritence: autosomal dominant, recessive and sex-linked inheritence with concrete pedigree cases. Selected genealogic schemes, monogene, polygene and multifactorial inheritence. Gene mapping in pedigree, linkage analysis, LOD - score, linkage, recombination, haplotype and parental genotype segregation. Physical and genetic map construction, prenatal and postnatal diagnostics. Monozygotic twin studies – concordance, cosanguinity relationship in a pedigree.
5. Human genome study in population. Basic population genetic terms: Hardy-Weinberg equilibrium, gene distribution in population (allele and genotype frequencies, phenotype variance, dominant and additive genetic effect, heritability). Factors influencing population structure and population quality: non-random breeding, migration, mutation, genetic drift and natural selection. „Founder effect“ in population, allele and genotype frequencies in small population. Bottleneck effect, heritability and prevalence of selected somatic characteristics and cognitive functions (disorders- skeletal growth, hormone regulation, autism, posttraumatic stress, alcoholism, schizophrenia, depression and demention). Geographic distribution of the gene and concrete cases.
6. Evolution of hominids Origin of bipedia and evolutionary consequences, brain in mammal evolution, first hominids Sahelanthropus, Orrorin, Ardipithecus, Kenyanthropus and Australopithecids, somatic characteristics, life style, evolutionary fate, Homo habilis/rudolfensis and human nutrition strategy, body characteristics, first tools, necrophagia, sdílení potravy, changes in reproductive strategy
7. Archaic man Homo ergaster – new body construction, better thermoregulation, artifacts, out of Africa, Homo erectus – mastering of fire and peopling of the Old Word, variability in body features, life style, industry, evolutionary fate, Homo heidelbergensis – mixture of characteristics and verbal communication, culture and life style, evolution in Africa and Europe, Homo neanderthalensis – body characteristics and environment, life style and social organisation, hunting, healthy status and life span, death and rituál, evolutionary fate, mtDNA analyses.
8. Modern man Origin of modern man from molecular-genetic point of view, Homo sapiens idaltu, H. sapiens palestinensis, H. sapiens sapiens, body characteristics and further evolution, life style and social organisation, healthy status and life span, burials, hunting, culture and art, abstract thinking, important Moravian and Czech finds.
9. Peopling of the New Word Route through Asia and molecular-genetic documents, colonisation of Australia and cosequences, colonisation of America and origin of paleoindian cultures, mtDNA and NRY analyses, languages of paleoamericans, peopling of Oceania, origin of agriculture, domesticaton.
10. Ontogenetic development of man Prenatal development, partiturion and characteristics of a newborn, periods of postnatal development and their characteristics, puberty, somatic development in adults and changes in physiological functions, characteristics of geronts, biological age, secular changes.
11. Principles of skeletal growth Ossification centers and growth zones, growth by relocation and translation, bone remodeling, cortical and tubercular drift, V-principle of growth, sites of aposition and resorption, basis of craniofacial and postcranial growth, general growth theories (functional matrix theory and servosystem theory)
12. Endocrine control and heritability of growth Hormones of postnatal growth, endocrine regualtion of growth, feedbacks, environmental impacts on growth, foetal growth hormones and factors, heritability of growth – calculation of quantitative and qualitative characteristics.
13. Assesment of growth and its disorders Basic growth parameters, cross-section and long-term studies, distance, velocity and acceleration growth curves, mean growth and mean constant curve, types of normal growth, growth retardation and excessive growth – congenital, intrauterine, chromosomal, endocrine, in chronic diseases etc (characters and growth curves)
Annotation
The course is focused on human evolution, ontogenetic development of man and principles of human genetics.
Evolution: ecological and ethological cause of evolution, origin of bipedal locomotion and human foraging strategy - consequences, bipedal apes – australopithecids and their kin, toolmakers with ape-like body proporcionality – Homo habilis/rudolfensis, human body proporcionality and first dispersion out of Africa – Homo ergaster, active hunting and mastering the fire – Homo erectus, verbal communication and mixture of characteristics – Homo heidelbergensis, adaptation to cold and blind evolutionary line – Homo neanderthalensis, abstract thinking and peopling of the New World – Homo sapiens.
Ontogenetic development: principles of skeletal growth, general growth theories, prenatal and postnatal growth and development, biological age, secular trend, prenatal and postnatal endocrine growth control, heritability of growth, methods of assessment of growth, growth disorders and their causes
Genetics: molecular bases of inheritence, chromosomal organisation of humen genome, human genome study on individual and pedigree levels, human genome research: population databases.