title: Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three-generation family study.
abstract: The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and alpha-mannosidase, is reported. The residual activities at 36.5 degrees C and 41.3 degrees C were below 10% of the activity in unheated samples for homozygotes, 40-50% for heterozygotes and above 90% for normals. The intracellular alkaline phosphatase and extracellular beta-hexosaminidase activities after treatment with heparin and gammaglobulin were 500% and 200%, respectively, of the activities without this treatment in CF homozygotes, whereas for heterozygotes and normals the values were the same after treatment as before. Pedigrees of four CF families, covering 2-3 generations, are presented. The possible use of these tests as diagnostic tools is further discussed.
mesh_terms: D000135:Acid Phosphatase / Q000378:metabolism; D000469:Alkaline Phosphatase / Q000378:metabolism; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006580:Genetic Carrier Screening; D006596:Hexosaminidases / Q000378:metabolism; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D008297:Male; D008361:Mannosidases / Q000378:metabolism; D010375:Pedigree; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases
chemical_list: D000469:Alkaline Phosphatase; D000135:Acid Phosphatase; D006596:Hexosaminidases; D008361:Mannosidases; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases