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Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant

✍ Scribed by Alexander Graham; Karen Hayes; Sebastian Weidinger; Clive R. Newton; Alexander F. Markham; Noor A. Kalsheker

Publisher: Springer
Year: 1990
Tongue: English
Weight: 179 KB
Volume: 85
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00206766

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✦ Synopsis

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.

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