| A null allele frequent in non-Jewish Tay-Sachs patients. | |
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MedLine Citation:
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PMID: 8444467 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The molecular basis of null alleles was investigated by cDNA polymerase chain reaction (PCR) in seven Tay-Sachs patients. Although mRNAs were undetectable by Northern blot, cDNA-PCR amplification allowed us to get a sufficient amount of cDNA to characterize abnormal transcripts. In two French patients (one homozygote and one compound heterozygote with a 4-bp insertion in exon 11 of the second allele) suffering an infantile form of the disease, we detected abnormal RNAs with a 17-bp insertion due to a GT to AT transition at the donor site of intron 9, resulting in the activation of a cryptic donor site in the intron. This mutation has been found in 9 out of 82 Tay-Sachs chromosomes (11%) in association with alleles responsible from different clinical courses. In the other five patients we found the 4-bp insertion in exon 11 and two nonsense mutations. |
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Authors:
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S Akli; J Chelly; A Kahn; L Poenaru |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 90 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1993 Feb |
Date Detail:
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Created Date: 1993-04-05 Completed Date: 1993-04-05 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 614-20 Citation Subset: IM |
Affiliation:
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Laboratoire de Recherches en Génétique et Pathologie Moléculaires, INSERM, U. 129, CHU Cochin, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles* Base Sequence Blotting, Northern DNA Mutational Analysis Exons Female Frameshift Mutation Humans Infant Introns Male Molecular Sequence Data Pedigree Point Mutation Polymerase Chain Reaction RNA Splicing RNA, Messenger / analysis Tay-Sachs Disease / genetics* |
| Chemical | |
Reg. No./Substance:
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0/RNA, Messenger |
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