[Sesquialter dosage effect of erythrocytic and leucocytic nucleoside phosphorylase in two patients with proximal trisomy 14q (author's transl)].
Nucleoside phosphorylase activity was assayed in two previously reported patients with trisomy for the proximal portion of 14q. A sesquialter dosage effect was demonstrated in erythrocytes as well as in leucocytes. These results are in favor of an ubiquitous expression of the gene and confirm its assignment to 14q13.
D002648:Child; D002901:Chromosomes, Human, 13-15; D004912:Erythrocytes / Q000201:enzymology*; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D006593:Hexokinase / Q000097:blood; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D010430:Pentosyltransferases / Q000097:blood / Q000235:genetics*; D010734:Phosphogluconate Dehydrogenase / Q000097:blood; D011683:Purine-Nucleoside Phosphorylase / Q000097:blood / Q000235:genetics*; D011741:Pyrimidine Nucleosides / Q000097:blood / Q000235:genetics; D057845:Pyrimidine Phosphorylases; D011770:Pyruvate Kinase / Q000097:blood; D014314:Trisomy
D011741:Pyrimidine Nucleosides; D007770:L-Lactate Dehydrogenase; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D010430:Pentosyltransferases; D057845:Pyrimidine Phosphorylases; D011683:Purine-Nucleoside Phosphorylase; D006593:Hexokinase; D011770:Pyruvate Kinase; D005634:Fructose-Bisphosphate Aldolase; D005956:Glucose-6-Phosphate Isomerase
Effet de dosage sesquialtère de la nucléoside phosphorylase érythrocytaire et leucocytaire dans deux cas de trisomie partielle 14q.