FoM:L7 - Genes and disease Flashcards
What is genomics?
scientific study of genomes, their organisation and evolution, using nucleotide sequencing and gene mapping
What is genomic medicine?
using an individual patients genome to help determine the best approach to care
Give 4 examples of genomic medicine
- chromosome abnormalities
- gene disorders
- common disease
- pharmacogenetics (personalised medicine)
What is cytogenetics?
- study of the structure of chromosomes
- looking for alterations (constitutional or somatic abnormalities)
- metaphase spread
- rapidly dividing tissues
What is karyotyping?
- proliferation of tissues
- stain applied, stains areas rich in A and T
- counted and structure analysed
What are genetic disorders of imprinting?
- karyotypes can be pathogenic if they have the wrong parental origin
- methylation patterns can be gender specific
- 1 copy of a gene is expressed
What is a mutation?
a permanent, transmissible change in genetic material
What is a polymorphism?
the existence of 2 or more alleles in the population
What are the different types of mutations?
- point mutation
- deletion
- insertion
- frame shift
- splicing
- gene expressions
What is a silent, nonsense, frame shift and missense mutation?
silent: no change in aa
missense: change in aa
nonsense: only 1 aa translated, no polypeptide made
frame shift: multiple aas after change in base sequence, are changed
What are the causes of mutation?
- spontaneous or induced
- mistakes in meiosis or DNA polymerase action
- mutagens can alter DNA: by covalently binding, adding chemical groups, causing damage
What is DNA repair?
- constantly operating process
- protects genome from damage
- protects from damage
What are monogenetic disorders?
- caused by mutation in single gene
- different modes of inheritance
- phenotype can vary
