| Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay. | |
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MedLine Citation:
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PMID: 11229516 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X syndrome is the most commonly inherited cause of mental retardation. Genetic diagnosis of this disease relies on the detection of triplet repeat expansion in the FMR1 gene on the X chromosome. Although the majority of disease in fragile X patients is due to mutations involving triplet repeat expansion, deletion of various portions of FMR1 has also been described in association with the fragile X syndrome. Here we describe a rare polymorphism in the noncoding region of FMR1 that mimics detection of a deletion in a commonly used assay for fragile X syndrome, which can result in misdiagnosis of the disease. |
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Authors:
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T M Daly; A Rafii; R A Martin; B A Zehnbauer |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of molecular diagnostics : JMD Volume: 2 ISSN: 1525-1578 ISO Abbreviation: J Mol Diagn Publication Date: 2000 Aug |
Date Detail:
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Created Date: 2001-03-02 Completed Date: 2001-03-22 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 100893612 Medline TA: J Mol Diagn Country: United States |
Other Details:
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Languages: eng Pagination: 128-31 Citation Subset: IM |
Affiliation:
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Department of Pathology, Washington University School of Medicine and St Louis Children's Hospital, Missouri 63110, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Artifacts Base Sequence Blotting, Southern Deoxyribonuclease EcoRI / metabolism Diagnostic Errors* Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis*, genetics* Gene Frequency Humans Male Nerve Tissue Proteins / genetics* Polymerase Chain Reaction Polymorphism, Genetic* Polymorphism, Restriction Fragment Length RNA-Binding Proteins* Sequence Analysis, DNA Sequence Deletion / genetics* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; EC 3.1.21.-/Deoxyribonuclease EcoRI |
| Comments/Corrections | |
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