Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
Year: 1999
Type: article
Study design: Case Report
Abstract: Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. Here we report the prenatal diagnosis of an affected fetus based on DNA analysis in chorionic villus tissue. We have also assessed the carrier status in this PCCB deficient family, which was not possible with biochemical analysis.
Source: Journal of Medical Genetics
DOI: 10.1136/jmg.36.5.412
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1753431262