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

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

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(...

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Veröffentlicht in:Human genetics 1990-08, Vol.85 (3), p.381-382
Hauptverfasser: GRAHAM, A, HAYES, K, WEIDINGER, S, NEWTON, C. R, MARKHAM, A. F, KALSHEKER, N. A
Format: Artikel
Sprache:eng
Schlagworte:
alpha 1-Antitrypsin - genetics
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Classical genetics, quantitative genetics, hybrids
Fundamental and applied biological sciences. Psychology
Genetic Variation
Genetics of eukaryotes. Biological and molecular evolution
Homozygote
Human
Humans
Isoelectric Focusing
Mutation
Polymerase Chain Reaction
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Zusammenfassung: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00206766