Related Experiment Videos
Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant
A Graham1, K Hayes, S Weidinger
1Department of Biotechnology, ICI Pharmaceuticals, Macclesfield, Cheshire, UK.
Human Genetics
|August 1, 1990
Abstract:
By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.