ANALYSIS OF PEROXISOMES IN LYMPHOBLASTS - ZELLWEGER SYNDROME AND A PATIENT WITH A DELETION IN CHROMOSOME-7

Citation
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
Citations number
27
Categorie Soggetti
Pediatrics
Journal title
ISSN journal
00313998
Volume
33
Issue
5
Year of publication
1993
Pages
441 - 444
Database
ISI
SICI code
0031-3998(1993)33:5<441:AOPIL->2.0.ZU;2-6
Abstract
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.