title: Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21.
abstract: Among several cases of partial monosomies and full and partial trisomies 21, the enzymatic activity of phosphofructokinase (PFK) is increased only in 21q21----21pter trisomy with a (T21/N) ratio equal to 1.35 and decreased in monosomy 21q21----21pter. These results suggest that the human gene for liver-type PFK is located between 21q21 and 21pter.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008099:Liver / Q000201:enzymology*; D008297:Male; D009006:Monosomy; D010732:Phosphofructokinase-1 / Q000235:genetics*; D014314:Trisomy
chemical_list: D007527:Isoenzymes; D010732:Phosphofructokinase-1