title: Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.
abstract: Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33 leads to qter. This places the ABO:Np-1:AK-1 linkage group at the distal end of the long arm of chromosome 9.
mesh_terms: D000017:ABO Blood-Group System; D000263:Adenylate Kinase / Q000097:blood*; D000328:Adult; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010770:Phosphotransferases / Q000097:blood*
chemical_list: D000017:ABO Blood-Group System; D010770:Phosphotransferases; D000263:Adenylate Kinase