title: Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies.
abstract: Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter leads to 8q24::14q21 leads to 14pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22+der(22),t(14;22)(14qter leads to 14q11 or 14q12::22p11 leads to 22qter)mat and a case with a a karyotype 47,XX,+der(14),t(14;16)(14pter leads to 14q11::16q24 leads to 16qter)mat had normal activity
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D009705:Nucleosides / Q000378:metabolism; D010770:Phosphotransferases / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D009705:Nucleosides; D010770:Phosphotransferases