White blood cell cultures in genetic studies on the human mucopolysaccharidoses.
Cultures of white cells derived from peripheral blood of individuals homozygous and heterozygous for the inherited mucopolysaccharidoses revealed a distinct intracellular metachromatic staining with toluidine blue O. These short-term cultures circumvent the technical problems of skin fibroblast cultures and provide a simple screening procedure to detect the heterozygous state for the mucopolysaccharidoses, as well as offering an opportunity to study the heterozygous state of various inherited storage diseases.
D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors; D002648:Child; D002675:Child, Preschool; D046508:Culture Techniques; D005347:Fibroblasts; D005826:Genetics, Medical; D006025:Glycosaminoglycans / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007962:Leukocytes; D008722:Methods; D008875:Middle Aged; D009083:Mucopolysaccharidoses; D012174:Retinitis Pigmentosa; D012867:Skin / Q000166:cytology; D013194:Staining and Labeling
D006025:Glycosaminoglycans