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 D...

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Bibliographic Details
Published in:	Human genetics Vol. 90; no. 1-2; pp. 169 - 170
Main Authors:	SCHWARZMAN, A. L, KOWALSKA, A, RUJNER, J, VLASOV, M. S, GAITSKHOKI, V. S
Format:	Journal Article
Language:	English
Published:	Heidelberg Springer 01-09-1992 Berlin New York, NY
Subjects:	Alleles alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency Base Sequence Biological and medical sciences Child Errors of metabolism Exons - genetics Female Humans Introns - genetics Lipids (lysosomal enzyme disorders, storage diseases) Liver Cirrhosis - genetics Male Medical sciences Metabolic diseases Molecular Sequence Data Mutation - genetics Oligodeoxyribonucleotides - genetics Polymerase Chain Reaction Human Allele Family study Deficiency Metabolic diseases Mutation De novo α1-Antitrypsin Genetic disease
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00210767