Li-Fraumeni Syndrome Flashcards
1
Q
Missense mutation
A
Changing one codon to another codon that codes for a different amino acid
2
Q
Tumour suppressor gene
A
Codes for a protein that helps control cellular growth
3
Q
Proband
A
An individual with a disorder who is the first object of the study
4
Q
Oligomerisation
A
A chemical process that links monomeric compounds to form dimers, trimers, tetramers or long chain molecules
5
Q
Autosomal dominant disease
A
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal copy on a pair of autosomal chromosomes
