Assessment 3 Genetics The content of this assessment will test your knowledge of key concepts in genetics and will prepare you for Assessment 4 (description of Assessment 4 follows): Phenotypic variation is the normal variation that is apparent in any family, but it is also the presence or absence of disease or disease susceptibility between individuals in families and populations. As geneticists, we identify genes and genetic variants, and relate this information to phenotypic variation. The rationale of this final assessment is to understand genetics in a professional context by linking specific genetic variant(s) to protein function and phenotypic variation. Question AreaQuestion1. Genome annotationDefine genome annotation [2 marks] and explain how homology alignments and identification of open reading frames is applied to genome annotation [2 marks]2. Genome StructureDefine coding and non-coding DNA [1 mark]; name the different types of repetitive DNA and provide an example of how repetitive DNA can lead to disease [2 marks]3. DNA sequencingCompare and contrast the difference between Sanger DNA sequencing [1.5 marks] and Next Generation DNA sequencing [1.5 marks]6. Epigenetics and the regulation of a genomeDescribe the role of DNA methylation and histone subunit acetylation in regulating transcription [2 marks] and identify the proteins and enzymes that write, erase, and read these modifications [1.5 marks].5. Linkage and genetic mappingDefine genetic linkage [1 mark] and describe how genetic linkage is used to identify mutations associated with specific phenotypes [2 marks]6. Alleles and phenotypesDefine dominant and co-dominant traits [1 mark]; define penetrance and provide examples of environmental and genetic factors that can modify penetrance [2.5 marks]
