Classification of diseases Flashcards
1
Q
Silent
A
(No Change [different codon, but same amino acid])
2
Q
Missense
A
(change in protein. Still functions [different codon])
3
Q
Nonsense
A
(loss of function/degraded/gain function [usually due to an early stop codon])
4
Q
Frameshift Mutation
A
Insertion/deletion of nucleotides.
5
Q
Multifactorial
A
- A disorder caused by more than 1 gene and/or environmental factors + lifestyle
6
Q
Chromosomal -
A
A disorder caused by chromosomal aberration
7
Q
Duplication -
A
A part of a chromosome is duplicated
8
Q
Inversion -
A
A part of a chromosome is inverted (flipped)
9
Q
Deletion
A
A part of a chromosome is deleted
10
Q
Insertion
A
A part of a chromosome is inserted into a different chromosome
11
Q
Translocation
A
- A chromosome swabs a part of itself with a part from another chromosome.
12
Q
Mitochondrial
A
A disorder caused by a mitochondrial gene
Mitochondrial gene is transferred from mothers
