In situ genetic complementation analysis of cells with generalized peroxisomal dysfunction.
Most patients with Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and hyperpipecolic acidemia are characterized by a deficiency of peroxisomes. We have developed a simple cytological method for the in situ detection of genetic complementation among and between these patients who are clinically and biochemically defined as having generalized peroxisomal dysfunction. This technique should facilitate both complementation studies in these disorders and investigations into the biogenesis of peroxisomes.
Singh
A K
AK
Department of Pathology/Laboratory Medicine, Medical University of South Carolina, Charleston.
Kulvatunyou
N
N
Singh
I
I
Stanley
W S
WS
D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D002374:Catalase / Q000032:analysis; D002460:Cell Line; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005455:Fluorescent Antibody Technique; D005816:Genetic Complementation Test; D006801:Humans; D007150:Immunohistochemistry; D008830:Microbodies; D010875:Pipecolic Acids / Q000097:blood*; D012035:Refsum Disease / Q000175:diagnosis*; D015211:Zellweger Syndrome / Q000175:diagnosis*
D010875:Pipecolic Acids; D002374:Catalase