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

Summary

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→qter. This places the ABO: Np-1: AK-1 linkage group at the distal end of the long arm of chromosome 9.

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Ferguson-Smith, M.A., Aitken, D.A., Turleau, C. et al. Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet 34, 35–43 (1976). https://doi.org/10.1007/BF00284432

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Keywords

  • Metabolic Disease
  • Somatic Cell
  • Structural Gene
  • Gene Locus
  • Cell Hybrid