Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three-generation family study.
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.
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
D000469:Alkaline Phosphatase; D000135:Acid Phosphatase; D006596:Hexosaminidases; D008361:Mannosidases; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases