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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1993-2-18
|
| pubmed:abstractText |
Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G-->A transition at the +1 position of intron 7, abolishes the donor splice site. Cultured human fibroblasts from a compound heterozygote for this transition (and for a deletion mutation) produce no detectable HEXA mRNA. The intron 7 + 1 mutation occurs in the base adjacent to the site of the adult-onset TSD mutation (G805A). In both mutations a restriction site for the endonuclease EcoRII is abolished. Unambiguous diagnosis, therefore, requires allele-specific oligonucleotide hybridization to distinguish between these two mutant alleles. The intron 7 + 1 mutation has been detected in three unrelated families. Obligate heterozygotes for the intron 7 + 1 mutation were born in the Saguenay-Lac-St-Jean region of Quebec. The most recent ancestors common to obligate carriers of this mutation were from the Charlevoix region of the province of Quebec. This mutation thus has a different geographic centre of diffusion and is probably less common than the exon 1 deletion TSD mutation in French Canadians. Neither mutation has been detected in France, the ancestral homeland of French Canada.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
90
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
402-6
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1483696-Base Sequence,
pubmed-meshheading:1483696-DNA, Single-Stranded,
pubmed-meshheading:1483696-Female,
pubmed-meshheading:1483696-Gene Expression,
pubmed-meshheading:1483696-Gene Frequency,
pubmed-meshheading:1483696-Heterozygote,
pubmed-meshheading:1483696-Hexosaminidase A,
pubmed-meshheading:1483696-Humans,
pubmed-meshheading:1483696-Introns,
pubmed-meshheading:1483696-Male,
pubmed-meshheading:1483696-Molecular Sequence Data,
pubmed-meshheading:1483696-Mutation,
pubmed-meshheading:1483696-Pedigree,
pubmed-meshheading:1483696-Polymerase Chain Reaction,
pubmed-meshheading:1483696-Quebec,
pubmed-meshheading:1483696-RNA, Messenger,
pubmed-meshheading:1483696-RNA Splicing,
pubmed-meshheading:1483696-Tay-Sachs Disease,
pubmed-meshheading:1483696-beta-N-Acetylhexosaminidases
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
|
| pubmed:affiliation |
Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|