1.3 Brittle Bones Flashcards
If bones breaking, only crawling what will be investigated
Type 1 collagen gene
How to investigate collagen
Culture fibroblasts and analyse collagen they synthesis by gel electrophoresis
What is type 1 collagen made up of
2x alpha1(I) chains
1x alpha2(I) chain
Why is it important for glycine to be at the centre of the triple helix of collagen 1
Small enough to fit
If mutated to other amino acids they won’t fit
Dominant pattern of mutation ha what affect
Gain of function
Why might a defect in collagen type 1 cause brittle bones
Collagen is later mineralised in formation of bones
Prenatal diagnostic test to identify a foetus who will suffer from OI
Sample from foetus of amniocentesis chorionic villus
Then PCR to amplify region with mutation and gel electrophoresis
