Genetics Flashcards
(17 cards)
What is the Central Dogma?
DNA Undergoes transcription and splicing RNA Undergoes translation Protein
What does splicing remove?
Introns
What are the 4 stages of the cell cycle?
G1
S
G2
M
What does mitosis give rise to?
2 identical daughter cells
What does meiosis give rise to?
4 haploid gametes with genetic variation
What is a polymorphism?
A DNA variant which has a population frequency greater than 1%
What is a mutation?
A DNA variant which causes or predisposes to a specific disease
Name 6 types of mutation
Premature stop Missense Insertion Deletion (out of frame) Deletion (in frame) Triplet expansion
What is a balanced translocation?
An even exchange or material between chromosomes with no genetic information extra or missing –> full functionality
What is an unbalanced translocation?
An unequal exchange of genetic material resulting in extra or missing information
What is an acrocentric chromosome?
A chromosome in which the centromere is located very near the end of the chromosome
What does FISH stand for?
What can it recognise?
FLourescent in-situ hybridisation
Can recognise aneuploidy, translocations
What is expression?
The process by which information from a gene is used in the synthesis of a functional gene product
What is penetrance
The extent to which a particular gene is expressed in the phenotype of individual carrying it
What is multifactorial disease?
Mutations in multiple genes combine with environmental factors to cause disease
What disease is BRCA1/2 associated with?
Breast cancer
What causes Cystic Fibrosis?
Mutation of the CFTR gene
