[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].
The enzymatic activity of G3PD and LDH-B in erythrocytes has been assayed in three patients carrying a rearrangement of the short arm of chromosome 12. The first patient is trisomic for the whole short arm. The second is trisomic only for the distal part and the third is monosomic for the proximal part. G3PD: Activity increased in patients 1 and 2 and normal in patient 3. LDH-B: Activity increased in patients 1 and 2 and decreased in patient 3. From these observations it is concluded that the erythrocytic G3PD locus is localized on the distal part of 12p, between 12p12.2 and 12 pter, and that LDH-B locus is on the middle third between 12p12.1 and 12p12.2
D002675:Child, Preschool; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000032:analysis; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D007770:L-Lactate Dehydrogenase / Q000097:blood; D014314:Trisomy
D007770:L-Lactate Dehydrogenase; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases
Localisation du gène de la glycéraldéhyde 3-phosphate déshydrogénase (G3PD) sur le segment distal du bras court du chromosome 12