Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids

Hum Genet. 1983;63(2):121-5. doi: 10.1007/BF00291530.

Abstract

A specific competitive radioimmunoassay (RIA) was employed to quantify human adenosine deaminase molecules produced in human-Chinese hamster somatic cell hybrids. Studies on a set of hybrids in which the normal and aberrant expressions of adenosine deaminase (assigned earlier to human chromosome 20) were segregating, have demonstrated that in the patient with ADA-SCID disease reported by Herbschleb-Voogt et al. (1981 a), the deficiency of ADA activity was associated with a comparable deficiency of adenosine deaminase specific immuno-crossreacting material (ADA-CRM).

MeSH terms

  • Adenosine Deaminase / deficiency
  • Adenosine Deaminase / genetics*
  • Animals
  • Cell Line
  • Clone Cells
  • Cricetinae
  • Cricetulus
  • HeLa Cells / enzymology
  • Heterozygote
  • Humans
  • Hybrid Cells / enzymology*
  • Immunologic Deficiency Syndromes / immunology*
  • Nucleoside Deaminases / genetics*
  • Radioimmunoassay

Substances

  • Nucleoside Deaminases
  • Adenosine Deaminase