Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34

Hum Genet. 1976 Sep 10;34(1):35-43. doi: 10.1007/BF00284432.

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

  • ABO Blood-Group System*
  • Adenylate Kinase / blood*
  • Adult
  • Chromosome Aberrations
  • Chromosome Mapping*
  • Chromosomes, Human, 6-12 and X*
  • Genes
  • Genetic Linkage
  • Humans
  • Infant
  • Infant, Newborn
  • Nail-Patella Syndrome / genetics*
  • Phosphotransferases / blood*

Substances

  • ABO Blood-Group System
  • Phosphotransferases
  • Adenylate Kinase