De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.
A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA from either the PiZ heterozygous parents or the PiZ homozygous brother of proband.
Schwarzman
A L
AL
Research Institute for Experimental Medicine, St. Petersburgh, Russia.
Kowalska
A
A
Rujner
J
J
Vlasov
M S
MS
Gaitskhoki
V S
VS
D000483:Alleles; D001483:Base Sequence; D002648:Child; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics*; D008103:Liver Cirrhosis / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
D009838:Oligodeoxyribonucleotides; D000515:alpha 1-Antitrypsin