Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.

Abstract

Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi-Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non-affected and one fetus was predicted to be affected. The concentration of N-acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non-affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.

• Authors: O N Elpeleg, A Shaag, Y Anikster, C Jakobs
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 17 Issue 6 Pg. 664-6 ( 1994) ISSN: 0141-8955 [Print] United States
• PMID: 7707689 (Publication Type: Journal Article)

Chemical References

• Aspartic Acid
• DNA
• N-acetylaspartate
• Amidohydrolases
• aspartoacylase

Topics

• Amidohydrolases (genetics)
• Amniotic Fluid (chemistry)
• Aspartic Acid (analogs & derivatives, analysis)
• Base Sequence
• Canavan Disease (diagnosis, genetics)
• DNA (analysis)
• Female
• Humans
• Molecular Sequence Data
• Pregnancy
• Prenatal Diagnosis