Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 45 (2) , 167-173
- https://doi.org/10.1007/bf00286958
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→8q24: :14q21→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→14q11 or 14q12::22p11→22qter)mat and a case with a karyotype 47,XX, +der(14),t(14;16)(14pter→14q11::16q24→16qter)mat had normal activity.This publication has 14 references indexed in Scilit:
- Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.Journal of Medical Genetics, 1977
- Gene Dose Effect: Regional Mapping of Human Nucleoside Phosphorylase on Chromosome 14Science, 1976
- Tertiary trisomy, 47,XX,+14q-, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24)Human Genetics, 1976
- Intrachromosomal gene mapping in man: Assignment of nucleoside phosphorylase to region 14cen?14q21 by interspecific hybridization of cells with a t(X;14) (p22;q21) translocationSomatic Cell and Molecular Genetics, 1976
- Trisomie 21 et superoxyde dismutase-1 (IPO-A)Experimental Cell Research, 1976
- [Letters to nature]Nature, 1975
- [Letters to nature]Nature, 1975
- Non-random occurrence of 7–14 translocations in human lymphocyte culturesNature, 1975
- Erythrocyte adenosine deaminase and purine nucleoside phosphorylase activity in goutClinica Chimica Acta; International Journal of Clinical Chemistry, 1975
- Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotypeAnnals of Human Genetics, 1969