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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1995-5-9
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
|
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0141-8955
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
664-6
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:7707689-Amidohydrolases,
pubmed-meshheading:7707689-Amniotic Fluid,
pubmed-meshheading:7707689-Aspartic Acid,
pubmed-meshheading:7707689-Base Sequence,
pubmed-meshheading:7707689-Canavan Disease,
pubmed-meshheading:7707689-DNA,
pubmed-meshheading:7707689-Female,
pubmed-meshheading:7707689-Humans,
pubmed-meshheading:7707689-Molecular Sequence Data,
pubmed-meshheading:7707689-Pregnancy,
pubmed-meshheading:7707689-Prenatal Diagnosis
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pubmed:year |
1994
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pubmed:articleTitle |
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
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pubmed:affiliation |
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
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pubmed:publicationType |
Journal Article
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