title: Detection of cystic fibrosis homozygotes and heterozygotes with plasma.
abstract: Evidence is accumulating which indicates that the basic defect in cystic fibrosis interferes with the formation of recognition markers on hydrolytic enzymes. As a result these hydrolases leak into the extracellular space and some of them display abnormal thermolabilities. By heat inactivation of plasma alpha-mannosidase at 41 degrees C and plasma phosphatase at 36.5 degrees C, both enzymes being assayed at pH 5.4, it is possible to differentiate normal people from cystic fibrosis carriers and patients.
mesh_terms: D000135:Acid Phosphatase / Q000097:blood*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006580:Genetic Carrier Screening; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D008361:Mannosidases / Q000097:blood*
chemical_list: D000135:Acid Phosphatase; D008361:Mannosidases