schizophrenia case study

Question 1

Gene ontology

Answer 1

Gene Ontology is a standardized system for describing the roles of genes and their products across all species. It classifies gene functions into three categories: Biological Process (the pathways and processes a gene contributes to), Molecular Function (the biochemical activity of a gene product), and Cellular Component (the location in the cell where the gene product is active). GO provides a controlled vocabulary that allows consistent annotation, comparison, and computational analysis of gene functions across different organisms.

Question 2

Penetrance:

Answer 2

The proportion of individuals with a specific genotype who express the associated phenotype.

Question 3

Incomplete penetrance:

Answer 3

disease genotype can occur in people who do not express the disease phenotype

Question 4

Genetic heterogeneity:

Answer 4

different disease genotypes are responsible for the same disease in different families

Question 5

Polygenic determination:

Answer 5

mutant alleles at more than 1 locus influence expression of the disease in a single person

Question 6

CNVs and mental conditons

Answer 6

Very long (> 1 Mb) deletions or duplication in the genome are
associated with 30% increased risk of psychiatric condition

Question 7

Pre genomic era

Answer 7

Older, pre-genomic methods included RFLP analysis
 The SNP has to change a restriction enzyme site

Question 8

Post-genomic era:

Answer 8

DNA sequences are directly use to examine SNPs
 Examine 10 000 to 1 000 000’s SNP at the same time
 Two main sequence methods: DNA microarrays or direct sequencing