MBI-3013 Human molecular genetics: medical and forensic genetics - 10 stp

The first part of this course will focus on basic topics in human genetics, such as the structure and function of chromosomes, the organization and evolution of the human genome, DNA sequence variation and the characteristics and regulation of protein coding and non-coding genes.

The next part will cover different topics in medical genetics, such as Mendelian inheritance, population genetics, mutations, and epigenetics in relation to diseases. Furthermore, lectures will be given on theory and methods for molecular genetic diagnostics as well as classic- and molecular cytogenetics.

The last part of the course will give a short general introduction to the discipline of forensic medicine, before focusing on forensic genetics and the analysis of biological traces in criminal cases. Lectures will cover the principles for detecting different body fluids, DNA-profiling using STR-markers, interpretation of the results and statistical calculations for evaluating the strength of DNA evidence. The analyses of alternative markers like SNPs and markers on Y-chromosomes and mitochondrial DNA will also be discussed.

The course will shortly cover some ethical and legal aspects related to both medical and forensic analyses and also give an introduction to new molecular methods in these disciplines.

During a laboratory exercise, the students will analyze evidence from a simulated criminal case using methods that are generally used in molecular genetics.

The course is an elective course for students accepted to the Master´s program in Biomedicine.

The course can be taken as a singular course by students with a Bachelor´s degree in Biomedicine or similar (180 ECTS).

Recommended prerequisites: Basic knowledge at University Bachelor level in general genetics and cell- and molecular biology.

Application deadline for nordic applicants is 1st of December. Applicationcode: 9371

Admission requirements: see admission requirements for the Masterprogram in biomedicine

After the course the student should be able to:

Knowledge:

• Explain the structure and organization of human chromosomes and the organization of the human genome
• Explain some basic theories for evolution of the human genome
• Explain the characteristics and regulation of protein-coding and non-coding genes
• Explain the biogenesis and function of non-coding RNAs and their role in human diseases
• Explain the structure, function and evolution of repeated DNA-sequences, including transposable elements and tandem repeated DNA sequences.
• Explain the basic principle of cell division, and the importance of meiosis for genetic diversity
• Describe genome-, chromosome- and gene mutations
• Explain key words and concepts in medical genetics
• Explain how heritable factors affect phenotypic traits in humans
• Explain the concepts of Mendelian and non-Mendelian inheritance
• Describe risk assessment in relation to pedigree patterns
• Explain the concept of DNA polymorphism
• Explain the Hardy-Weinberg law and how it can be used as a tool in medical genetics
• Explain how genetic changes can cause disease, how genes associated with disease are inherited in families and how they are spread in populations.
• Explain basic sequence variant- and cytogenomic nomenclature
• Explain how G-banding (karyotyping), locus-specific methods and genomics can be used in medical genetics diagnostics
• Explain the basic principles of epigenetics including DNA methylation, non-coding RNA and histone modification
• Describe X-inactivation in females
• Explain the structure and evolution of short tandem repeat markers and their use forensic genetics
• Explain the role of forensic genetics in criminal cases and the principles of standard laboratory techniques that are used for DNA-profiling, including their advantages and limitations
• Explain the most commonly used statistical methods for evaluating the strength of DNA-evidence and how the allele frequencies that are necessary for these calculations can be obtained for a given population
• Explain how DNA databases are used in crime scene investigations
• Explain the importance of locating and identifying biological body fluids and principles of laboratory techniques that can be used
• Explain the role of alternative genetic markers relevant in forensic genetics, such as Y-STRs, SNPs and mitochondrial sequence variants
• Discuss quality assurance in a forensic laboratory
• Explain the scientific theory of methods and techniques relevant for genetic analysis

Skills:

• Apply methods performed during the laboratory exercise, interpret and discuss obtained results in a written report
• Apply statistical analysis on good quality DNA traces and discuss the significance of the results

General proficiency:

• Communicate knowledge and skills acquired from the laboratory exercise using relevant scientific language
• Communicate the role of DNA-analysis in the field of criminal justice in particular, but also in the society in general
• Communicate about medical genetics with specialists in the field and to the community in general
• Discuss legal- and ethical issues related to medical and forensic genetics
• Apply acquired knowledge in genetics from this course in other areas

Written exam (5 hours), graded alphabetically A-F (F-fail).

Coursework requirements:

Coursework requirements must be passed in order to attend the exam:

• Participation in the first lecture of the course.
• Attendance in all the laboratory lectures and exercises
• Approved laboratory report

Re-sit/postponed exam A re-sit exam/postponed exam will be arranged early in the following semester, for candidates who failed the exam or who, for valid reasons, were unable to attend.

The date for the exam can be changed. The final date will be announced at your faculty early in May and early in November.