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Cerca nel sito solo nella sezione corrente. The genetic mapping of both mendelian and complex characters will be described through linkage analysis and linkage disequilibium studies also applied to the whole genome GWAS.
The impact of new knowledge of the human genome in the study of human molecular genetics will be presented. The basic concepts of population genetics and cancer genetics will also be provided. Through technical practices, a direct experience umaja the use of specific methodologies commonly employed in human genetics will be acquired. Knowledge and understanding of the main tools of human genome analysis and the molecular basis of genetic diseases.
Geentica particular, the student will know the main approaches for genetic analysis of Mendelian and complex traits linkage analysis, allelic association also extended to the whole genome, GWASelements of genetiac pathology and the main bioinformatics tools for the analysis of molecolaree human genome.
The student will acquire some basic laboratory techniques for the analysis of DNA and its polymorphisms. Applying knowledge and understanding: General knowledge of the methodologies employed in human genetic analysis.
Ability a to determine the mode of inheritance of simple Mendelian or of complex traits, through both pedigrees analysis or population-based approaches;, b to estimate transmission probability to the offspring, and 3 to asses genetic wtrachan among genes or alleles in populations or family-based studies.
Use of statistical tests to verify the significance of experimental data. Genetic analysis at the population level. Acquisition of basic methodologies for the analysis of DNA and its polymorphisms.
Acquisition of critical skills in analysing and interpreting experimental results of genetic tests.
Genetica Molecolare Umana Strachan Pdf Download
Understanding of the probabilistic nature of predictions in the moldcolare of traits to the offspring. Awareness of the complex relationship between genotype and phenotype and of the evolutionary importance of genetic variability.
Critical interpretation of statistical tests to verify the significance and the inference derived from the analysis of experimental data. Ability to express genetic concepts and data through proper scientific terminology.
Ability to communicate and explain even to non-specialists issues concerning heredity, the relationship between genotype and phenotype and the molecular basis of genetic diseases in humans. Prerequisites Although there are no prerequisites, the student should have a good knowledge of basic concepts of general biology and genetics, with particular care of Mendel’s laws, their extensions and complicating factors, cytogenetics, molecular biology and biochemistry.
Course programme The course consists of theoretical lessons and guided experimental activities. The goal of the lessons is to help the students to uncover and make connections among the main concepts of human molecular genetics.
The program is as follows: Population genetics 8 hours The Hardy-Weinberg law for autosomal and X-linked loci and its application.
HUMAN MOLECULAR GENETICS
Factors affecting genetic variation: Mendelian population and gene pool. Evolutionary factors involved in H-W equilibrium: The human genetic variability 6 hours. Rare and common variants polymorphisms. Dynamic mutations and triplet repeat expansion disease TRED. Laboratory practice on basic ztrachan used for the analysis of DNA and genetic polymorphisms.
Inheritance of molwcolare Mendelian diseases in humans 14 hours. Main transmission patterns in genealogical trees of Mendelian characters autosomal dominant, recessive, X-linked. The genetic mapping of Mendelian characters.
Role of recombination in gene mapping. Calculation of the overall likelihood of a pedigree: Genetic dissection of complex or multifactorial diseases 14 hours. Non-parametric linkage analysis, case-control association studies, association studies extended to the whole genome GWAS.
Genetics and Genomics in Medicine
Identification of susceptibility genes through Linkage Disequilibrium moleccolare. Strategies in identifying and cloning disease genes: Significance levels and multiple tests. Multifactorial threshold model discontinuous characters.
Linkage disequilibrium analysis and Umama project 6 hours. The limits of the association studies for the identification of susceptibility to complex diseases.
Structure and molecular analysis of the human genome. Exome sequencing and its application.
Molecular Pathology – Immunology (Integrated Course) (AK-A) / — University of Bologna
Didactic methods The course consists of theoretical lessons and strachwn experimental activities. In ,olecolare detail, the course load is 48 hours 6 ECTS that are taught in the classroom and in practice actyivities on problem solving, written tests and laboratory practice on DNA and genetic polymorphism analysis.
Classes are held weekly in the classroom, using powerpoint slides. For a better comprehension of some topics also the classical backboard will be used.
Learning assessment procedures The aim of the exam is to test the level of knowledge and deepening of the topics of the course program and the reasoning skills developed stdachan the student on issues related to human molecular genetics. With the exception of students manifesting problems, the exam is written, and consists of 7 multi-choice questions and 4 open questions on all the main topics of the course.
To each multiple-choice response value can score up to 2.
Each open response value can score up to 4. The test will last 2 hour. Reference texts Recommended Books: Human Molecular Genetics 4th edition – Bruce R. Irons Human Genetics and genomics 4a ed. Dipartimento di Scienze della Vita e Biotecnologie Coordinatore: Via Luigi Borsari, 46 Ferrara Guarda la mappa.