Mj. Santos et al., ANALYSIS OF PEROXISOMES IN LYMPHOBLASTS - ZELLWEGER SYNDROME AND A PATIENT WITH A DELETION IN CHROMOSOME-7, Pediatric research, 33(5), 1993, pp. 441-444
Lymphoblasts are useful cells for the diagnosis and basic studies of s
everal human genetic disorders. Peroxisomal disorders are usually diag
nosed by using fibroblasts or blood samples. Here, we report the chara
cterization of peroxisomes in lymphoblasts. We demonstrated that lymph
oblasts from a patient with Zellweger syndrome, the prototypical disor
der of peroxisome biogenesis, contained peroxisomal ghosts like those
described previously in Zellweger fibroblasts. We also found that lymp
hoblasts that carry a deletion on chromosome 7 (q11.23q22.1), a region
thought to contain one Zellweger syndrome gene, contained normal pero
xisomes.