Frecker M, Dallaire L, Young S R, Chen G C, Simpson N E
Hum Genet. 1978 Dec 18;45(2):167-73. doi: 10.1007/BF00286958.
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
基因剂量研究所得结果与将核苷磷酸化酶基因座定位于14q13带一致。一名核型为47,XX,+der(14),t(8;14)(8qter至8q24::14q21至14pter)pat的患者的红细胞酶活性比47名正常对照者、2名涉及14号染色体以外染色体的三体患者以及5名涉及14号染色体的平衡易位患者的红细胞酶活性高50%。另一方面，一名核型为45,XX,-14,-22+der(22),t(14;22)(14qter至14q11或14q12::22p11至22qter)mat的患者以及一名核型为47,XX,+der(14),t(14;16)(14pter至14q11::16q24至16qter)mat的患者的红细胞具有正常活性
