1000 words excluded referencing
Due on June 9, 2021 Wednesday at 11 PM
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.
The report is a maximum of 1000 words (there is no minimum word count). Referencing is Vancouver. This report is worth 30%.
The report will include:
1. Name of the gene : Leptin (LEP)
2. Summary of mutations or polymorphisms associated with that gene
3. Phenotypic changes associated with the mutation(s) or polymorphisms
4. An explanation that provides a link between the mutation, protein function, and phenotypic variability
As described above, an important part of this assessment is describing how a mutation affects the function of a protein and how this then leads to changes in phenotype. Several experimental methods that are used to understand the biological significance of a mutation. Such biological experiments can be aided by bioinformatic approaches, including multiple sequence alignments, that identify conserved domains.