| Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome. | |
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MedLine Citation:
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PMID: 9490298 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot suggestive of a full mutation in FMR1. This may lead to a false-positive diagnosis of fragile X syndrome. Such additional bands are avoided by the use of HindIII instead of EcoRI. Therefore, we recommend the use of HindIII for the molecular diagnosis of fragile X syndrome. |
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Authors:
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K Storm; I Handig; E Reyniers; B A Oostra; R F Kooy; P J Willems |
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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: 102 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1998 Jan |
Date Detail:
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Created Date: 1998-03-03 Completed Date: 1998-03-03 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: 54-6 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, University of Antwerp, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blotting, Southern
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methods Deoxyribonuclease EcoRI / metabolism* Deoxyribonuclease HindIII / metabolism False Positive Reactions Fragile X Syndrome / diagnosis*, genetics* Humans Mutation* Restriction Mapping / methods |
| Chemical | |
Reg. No./Substance:
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EC 3.1.21.-/Deoxyribonuclease EcoRI; EC 3.1.21.-/Deoxyribonuclease HindIII |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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