PstI polymorphism of the alpha 1-antitrypsin-like gene.

SOURCE/DESCRIPTION: pEl was subcloned from the cosmid pcosEMBLaAT(ref .1) and contains a 9.6kb-fragment of the cosmid extending from the EcoRI-site in in-tron A to an EcoRI-site 2.5kb 3' of the «-antitrypsin gene.Vector is pBR322. POLYMORPHISM: PstI identifies a 2-allele system with alternative bands at 5.0kb (PI) and at 3.2kb (P2) for a site within the a.-antitrypsin-like gene. Several constant bands are seen (fig.l). MENDELIAN INHERITANCE: Co-dominant segregation demonstrated in 2 families (12 individuals). Fig.l: mother(2),father(3),children(4-7). OTHER COMMENTS: Genomic mapping has shown that the PstI polymorphism is due to a deletion of 1.8kb in the o-antitrypsin-like gene.This deletion gives also rise to an EcoRI polymorphism (alleles El:8.5kb, E2:6.7kb) and an Avail polymorphism (alleles Al:2.5kb, A2:0.7kb).Bands marked by a dot in fig.l are from the a.-antitrypsin-like gene,all others are from the Ot^-antitrypsin gene.