NDLI: Novel polymorphism in the FMR1 gene resulting in a 'pseudodeletion' of FMR1 in a commonly used fragile X assay.

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Novel polymorphism in the FMR1 gene resulting in a 'pseudodeletion' of FMR1 in a commonly used fragile X assay.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Daly, T. M. Rafii, A. Martin, R. A. Zehnbauer, B. A.
Description	Country affiliation: United States Author Affiliation: Daly TM ( Department of Pathology, Washington University School of Medicine and St Louis Children's Hospital, Missouri 63110, USA.)
Abstract	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.
File Format	HTM / HTML
ISSN	15251578
e-ISSN	19437811
Journal	The Journal of Molecular Diagnostics
Issue Number	3
Volume Number	2
Language	English
Publisher	Elsevier
Publisher Date	2000-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology Diagnostic Errors Fragile X Syndrome Diagnosis Genetics Nerve Tissue Proteins Polymorphism, Genetic Rna-binding Proteins Sequence Deletion Artifacts Blotting, Southern Deoxyribonuclease Ecori Metabolism Fragile X Mental Retardation Protein Gene Frequency Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Sequence Analysis, Dna
Content Type	Text
Resource Type	Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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