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Human Genetics [ WBCHM1317 ]


2.0 crédits ECTS  15.0 h   1q 

Teacher(s) Vikkula Miikka ;
Language French
Place
of the course
Bruxelles Woluwe
Main themes The course focuses on the genetic principals in healthy and pathological states. It also covers useful notions for the understanding of the methodology of genetic analysis.
Aims This course aims to give the students a global vision of the normal and pathological aspects of human genetics. At the end of the course, the students should have acquired a basic genetic knowledge allowing to: (i) better understand the molecular mechanisms of genetic disorders and the genetic diagnosis teached further in the 2nd cycle (students in medecine), and (ii) continue studies in Biomedical Sciences.
Content This course continues the teaching of the General Biochemistry (BCHM1210) and Molecular Biology (SBIM1202) courses and it is complementary to the Biochemistry BCHM1315 and BCHM1316 courses. The course focuses on developing students' knowledge on molecular genetics. The aim is to understand the human genome variability, its different polymorphisms, their frequency and evolution, and also the role of the genetic variation in phenotypic variation. The course covers : (i) the DNA; (ii) normal and abnormal karyotype ; (iii) transmission of hereditary characteristics; (iv) detection methods of genetic markers ; (v) different types of polymorphisms and their use in genetic analyses.
Other information Prerequisites : Basic notions of molecular biology and statistics equivalent to the courses of General Biochemistry BCHM1210 and Molecular Biology SBIM1202. Evaluation : Written examination. The students will be examined on their knowledge, their capacity to integrate the different parts of the course and on their capacity to use their knowledge to solve genetic problems. Support : Course presentation (slides - pdf files available on iCampus) and recommended genetic books : - Génétique moléculaire humaine : une introduction aux mécanismes des maladies héréditaires, Jack Pasternak, De Boek, 2003 ; - Thompson & Thompson, Genetics in Medicine 7th edition, Nussbaum, McInnes and Willard, Saunders, Elsevier, 2007; - Biologie moléculaires et médecine, J-C Kaplan et M Delpech, 3è édition. Médecine-Sciences, Flammarion, 2007 ; - New clinical genetics, A. Read and D. Donnai, Scion, 2007. Encadrement : Magistral teaching Other : The course cannot be taken as a minor.
Cycle et année
d'étude
> Bachelor in Medecine
> Bachelor in Biomedicine
Faculty or entity
in charge
> MED


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