title: DNA polymorphisms associated with a new alpha 1-antitrypsin PIQ0 variant (PIQ0riedenburg).
abstract: A new PIQ0 variant (PIQ0riedenburg) is described; it is caused by a complete deletion of the alpha 1-antitrypsin (alpha 1 AT) gene. The deletion gives rise to four new restriction fragment length polymorphisms (RFLPs) detected with a genomic probe of the 5' region of the gene. Analysis of the RFLPs indicates that the deletion starts immediately upstream of exon Ic. The deletion extends into the 3' flanking region of the gene but does not include the alpha 1 AT-related gene (the PIL gene), which is located 12 kb downstream of the alpha 1 AT gene.
authors.affiliation: Medizinische Klinik, Klinikum Bergmannsheil, Ruhr-Universität, Bochum, Federal Republic of Germany.
authors.forename: W
authors.initials: W
authors.lastname: Poller
authors.forename: J P
authors.initials: JP
authors.lastname: Faber
authors.forename: S
authors.initials: S
authors.lastname: Weidinger
authors.forename: K
authors.initials: K
authors.lastname: Olek
mesh_terms: D000483:Alleles; D002872:Chromosome Deletion; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin