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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1998-1-2
|
| pubmed:abstractText |
Two affected HEXA alleles were found in an Israeli Druze Tay-Sachs child born to first-cousin parents. His paternal allele contained two adjacent changes in exon 5: delta496C, which resulted in a frameshift and premature termination codon 96 nucleotides downstream, and 498C-->G, a silent mutation. The maternal allele had a 835T-->C transition in exon 8 (S279P). Phosphoimaging quantitation of the parents' RNAs showed that the steady-state levels of mRNAs of the mutant exons 5 and 8 were 5% and 50%, respectively, of normal levels. The exon 5 mutated allele with the premature translation termination resulted in severe deficiency of Hex A. Transient expression of the exon 8 mutated alpha-chain cDNA in COS-1 cells resulted in deficiency of enzymatic activity. The child exhibited a late-infantile-type disease.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1059-7794
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
10
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
451-7
|
| pubmed:dateRevised |
2007-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9401008-Alleles,
pubmed-meshheading:9401008-Animals,
pubmed-meshheading:9401008-COS Cells,
pubmed-meshheading:9401008-Child, Preschool,
pubmed-meshheading:9401008-Consanguinity,
pubmed-meshheading:9401008-Female,
pubmed-meshheading:9401008-Frameshift Mutation,
pubmed-meshheading:9401008-Genes,
pubmed-meshheading:9401008-Hexosaminidase A,
pubmed-meshheading:9401008-Humans,
pubmed-meshheading:9401008-Israel,
pubmed-meshheading:9401008-Male,
pubmed-meshheading:9401008-Point Mutation,
pubmed-meshheading:9401008-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9401008-RNA, Messenger,
pubmed-meshheading:9401008-Sequence Analysis, DNA,
pubmed-meshheading:9401008-Tay-Sachs Disease,
pubmed-meshheading:9401008-Transfection,
pubmed-meshheading:9401008-beta-N-Acetylhexosaminidases
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
|
| pubmed:affiliation |
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Israel.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|