Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

✍ Scribed by Maxine Frecker; L. Dallaire; S. Robert Young; Grace C. C. Chen; Nancy E. Simpson

• Publisher: Springer
• Year: 1978
• Tongue: English
• Weight: 344 KB
• Volume: 45
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00286958

✦ Synopsis

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