Human Genetics (MSc)

Compulsory Course

  • in MSc Biomedical Sciences, 3rd Semester 
  • 6h/week (2L/2E/2P)
  • Credits: 8 ECTS

→Download scripts, group assignment etc. (LEA)

Hochschule Bonn-Rhein-Sieg

Lecture

Learning outcomes:

At the end of this unit the students are able to:

  • identify human gene variations using methods of molecular genetic analysis
  • apply hybridization techniques in tumor diagnosis
  • analyze food products for their genetic properties
  • employ chromosome analyses in prenatal and tumor diagnosis
  • carry out genetic analyses in forensic applications

Content:

Mendelian Genetics, extensions to and exceptions from Mendelian Genetics, sexual development , sex chromosomes, X-chromosome inactivation, influence of sex on genetic properties, genomic imprinting, multifactorial traits, behavioral genetics, population genetics, human evolution, genetics of human cancer, gene therapy and genetic consulting, reproductive technologies, cloning of mammals, ethical issues, selected topics of human genetic research.

Practical Course

Content:

  • Cytogenetic and other human genetic analysis methods, karyotype analyses, identification of sex chromosomes, fluorescence in situ hybridization (FISH).
  • Analysis of karyotypes in unknown genetic and tumor samples.
  • Experimental analysis of genetic polymorphisms.

Prerequisites

none

Recommendations: Basic knowledge in Molecular Biology/Genetics from a former BSc (or other basic) curriculum

Assessment

Module exam – graded

Written test: 50%

Written practical course report 50%

Literature

  • Human Genetics by Ricky Lewis, Mc Graw Hill, 2006 (lecture)
  • Human Cytogenetics. A Practical Approach. Rooney DE, Czepulkowski BH; Eds. IRL Press Oxford 1992
  • Human chromosomes. Manual of basic techniques. Verma RS, Babu A, Pergamon Press New York 1989
  • Human chromosomes. Miller OJ, Therman E, 4th ed. Springer, New York, 2001
  • ISCN 1995 - An International System for Human Cytogenetic Nomenclature. Mitelman F, Karger, Basel 1995
  • In situ hybridization. Principles and Practice. Polak JM, McGee JO´D, Eds., Oxford University Press, Oxford 1990
  • In situ hybridization protocols. Methods in Molecular Biology. Andy Choo KH, eds, Humana Press, Totowa 1994
  • In situ Hybridisierung. Leitch AR, Schwarzacher AR, Jackson D, Leitch IJ, Spektrum 1994