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Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.

Abstract：

:Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into primary fibroblasts. We demonstrate the reliability of this method for identification of the defective PCC gene in order to unequivocally approach the mutational analysis in the corresponding PCCA and PCCB genes.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Rodriguez-Pombo P,Pérez-Cerdá C,Desviat LR,Pérez B,Ugarte M,Rodríguez-Pombo P

doi

10.1006/mgme.2001.3296

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

276-9

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096719201932962

journal_volume

75

pub_type

杂志文章

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