Linkage between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY.

Linkage is reported between the expressed hypervariable gene locus PUM and the gene coding for the Duffy blood group FY, with a maximum lod score of 4 at theta = 0. Linkage can be excluded between PUM and PEPC at a distance of 10 cM.

Cloning of the human alpha 1 antichymotrypsin gene and genetic analysis of the gene in relation to alpha 1 antitrypsin deficiency.

Deficiency of alpha 1 antitrypsin (Pi) is clinically heterogeneous and the unpredictability of the clinical manifestation in a person of phenotype PiZ, which may vary from severe childhood liver disease to normal health, is a problem in genetic counselling. This problem may increase as couples at risk who have not had an affected child are identified in screening programmes. One possibility is that genetic variation of other protease inhibitors may influence the prognosis.

Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.

Adult polycystic kidney disease (APKD) is a common genetic disorder that is inherited as an autosomal dominant trait. Recent reports show that, in some families, the APKD gene shows close genetic linkage to two chromosome 16 specific genetic markers. We have been conducting a genetic linkage study using 29 polymorphic isoenzyme and antigenic markers in 184 members of 12 APKD families.

The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM.

A single highly-polymorphic autosomal gene locus PUM codes for a family of mucin-type glycoproteins, separable by SDS-gel electrophoresis, which we first identified in human urine. The locus also codes for glycoproteins which are abundant in several other normal epithelial tissues and body fluids, including milk, and in tumours of epithelial origin. These mucin-type glycoproteins seem to be very immunogenic in rodents and, in a search for epithelial specific or tumour-associated antigens, a large number of related antibodies have been isolated which bind to the PUM-coded mucins.