Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome

Manuel J. Santos, Ann B. Moser, Helen Drwinga, Hugo W. Moser, Paul B. Lazarow

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)441-444
Number of pages4
JournalPediatric research
Volume33
Issue number5
DOIs
StatePublished - May 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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