Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23

Am J Med Genet. 1979;4(2):167-72. doi: 10.1002/ajmg.1320040209.

Abstract

The human red cell acid phosphatase (ACP1) locus was assigned to region 2p23 leads to 2pter by Ferguson-Smith et al [3], more specifically to 2p23 by Hamerton et al [5]. We describe two unrelated patients with deletion of chromosome 2, with similar breakpoints in the distal portion of band p23 (del(2) (p23)). ACP1 typing in both patients revealed heterozygous BA phenotypes. Thus, we assign the locus for ACP1 to the distal portion of 2p23.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / enzymology
  • Abnormalities, Multiple / genetics
  • Acid Phosphatase / genetics*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, 1-3*
  • Female
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype

Substances

  • Genetic Markers
  • Acid Phosphatase