Summary
By sequence analysis of the complete proteincoding 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 Va1213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.
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References
Cox DW, Billingsley GD (1986) Restriction enzyme MaeIII for prenatal diagnosis of α-1-antitrypsin deficiency. Lancet II:741
Jeppsson JO, Laurell CB (1988) The amino acid substitutions of human alpha-1-antitrypsin M3, X and Z. FEBS Lett 231:327–330
Newton CR, Kalsheker N, Graham A, Powell S, Gammack A, Riley J, Markham A (1988) Diagnosis of α-1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res 16:8233–8243
Nukiwa T, Satoh K, Brantly ML, Ogushi F, Fells GA, Courtney M, Crystal RG (1986) Identification of a second mutation in the protein-coding sequence of the Z type alpha-1-antritrypsin gene. J Biol Chem 261:15989–15994
Nukiwa T, Brantly ML, Ogushi F, Fells GA, Crystal RG (1988) Characterisation of the gene and protein of the common alpha-1-antitrypsin normal M2 allele. Am J Hum Genet 43:322–330
Weidinger S, Jahn W, Cujnik F, Schwarzfischer F (1985) Alpha-1-antitrypsin: evidence for a fifth PiM subtype and a new deficiency allele Pi* Zaugsburg. Hum Genet 71:27–29
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Graham, A., Hayes, K., Weidinger, S. et al. Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant. Hum Genet 85, 381–382 (1990). https://doi.org/10.1007/BF00206766
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DOI: https://doi.org/10.1007/BF00206766