J Med Genet. 1999 May;36(5):412-4.

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.

Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M.

Source

Centro de Diagnóstico de Enfermedades Moleculares, Departamento de Biología Molecular, CBMSO, Universidad Autónoma de Madrid, Spain.

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.

PMID:: 10353789; [PubMed - indexed for MEDLINE]
PMCID:: PMC1734372

Free PMC Article

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Mutations participating in interallelic complementation in propionic acidemia. [Am J Hum Genet. 1994]
Mutations participating in interallelic complementation in propionic acidemia.
Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I. Am J Hum Genet. 1994 Jul; 55(1):51-8.
Review Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. [Hum Mutat. 1999]
Review Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA. Hum Mutat. 1999; 14(4):275-82.
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. [Hum Genet. 1997]
Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M. Hum Genet. 1997 Nov; 101(1):93-6.
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. [Am J Hum Genet. 2000]
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M. Am J Hum Genet. 2000 Jul; 67(1):203-6. Epub 2000 May 16.
Review Propionic acidemia: a clinical update. [J Pediatr. 1981]
Review Propionic acidemia: a clinical update.
Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL. J Pediatr. 1981 Dec; 99(6):835-46.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Free in PMC
Free full text articles in PMC

Recent activity

Clear Turn Off Turn On

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of...
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
J Med Genet. 1999 May ;36(5):412-4.

PubMed
Structure of importin-beta bound to the IBB domain of importin-alpha.
Structure of importin-beta bound to the IBB domain of importin-alpha.
Nature. 1999 May 20 ;399(6733):221-9.

PubMed
Cancer. Many vessels, faulty gene.
Cancer. Many vessels, faulty gene.
Nature. 1999 May 20 ;399(6733):203-4.

PubMed
Effect of fenugreek seeds on blood lipid peroxidation and antioxidants in diabet...
Effect of fenugreek seeds on blood lipid peroxidation and antioxidants in diabetic rats.
Phytother Res. 1999 May ;13(3):197-201.

PubMed
[Marfan's syndrome with ascending aortic aneurysm and aortic valve insufficiency...
[Marfan's syndrome with ascending aortic aneurysm and aortic valve insufficiency - autofluoroscopic diagnosis].
Rinsho Hoshasen. 1976 May ;21(6):521-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information