Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7.
Lymphoblasts are useful cells for the diagnosis and basic studies of several human genetic disorders. Peroxisomal disorders are usually diagnosed by using fibroblasts or blood samples. Here, we report the characterization of peroxisomes in lymphoblasts. We demonstrated that lymphoblasts from a patient with Zellweger syndrome, the prototypical disorder of peroxisome biogenesis, contained peroxisomal ghosts like those described previously in Zellweger fibroblasts. We also found that lymphoblasts that carry a deletion on chromosome 7 (q11.23q22.1), a region thought to contain one Zellweger syndrome gene, contained normal peroxisomes.
Department of Cell and Molecular Biology, Catholic University of Chile, Santiago.
M J
MJ
Santos
A B
AB
Moser
H
H
Drwinga
H W
HW
Moser
P B
PB
Lazarow
D002460:Cell Line; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism / Q000648:ultrastructure; D008830:Microbodies / Q000378:metabolism / Q000648:ultrastructure*; D010641:Phenotype; D010955:Plasmalogens / Q000096:biosynthesis; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D010955:Plasmalogens