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Immunoblot detection of enzyme proteins of peroxisomal β‐oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome
Author(s) -
Shimozawa Nobuyuki,
Suzuki Yasuyuki,
Orii Tadao,
Hashimoto Takashi
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080407
Subject(s) - chorionic villi , zellweger syndrome , peroxisomal disorder , peroxisome , thiolase , prenatal diagnosis , biology , placenta , microbiology and biotechnology , fetus , biochemistry , pregnancy , gene , genetics
The amounts of enzyme proteins of peroxisomal β‐oxidation in fibroblasts and chorionic villous cells from infants with Zellweger syndrome and in fibroblasts, amniocytes, and chorionic villi from healthy controls were measured by immunoblot analysis. Immunoreactive proteins of peroxisomal acyl‐CoA oxidase and 3‐ketoacyl‐CoA thiolase were absent in fibroblasts and chorionic villous cells from the patients, yet these enzyme proteins were present in fibroblasts, cultured amniocytes, and chorionic villi from the normal controls. These results show that immunoblot analysis of peroxisomal β‐oxidation enzymes in amniocytes and chorionic villous cells is of potential value for the prenatal detection of Zellweger syndrome.