Matches in SemOpenAlex for { <https://semopenalex.org/work/W1937266112> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W1937266112 abstract "Abstract Although many genetic diseases are caused by the presence of point mutations in respective genes, an increasing number of diseases are known to be caused by gene copy number changes. We report the development of a rapid and reliable PCR-based method for quantitation of gene copy number with sufficient sensitivity to detect single copy changes without the use of radioactive or fluorescent labeling. The sensitivity of this technique has been demonstrated by the detection of the DNA duplication or deletion occurring in two inherited peripheral neuropathies, Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), that are caused by a reciprocal duplication or deletion event on chromosome 17p11.2–12. This method relies on the comparison of the amount of PCR product generated from a potentially duplicated or deleted target sequence with the amount of product generated from a disomic reference gene. The value of this ratio (target PCR product:reference PCR product) indicates whether the target sequence is duplicated, deleted, or unchanged. Using primers from within a duplicated or deleted region (PMP22 gene and EW401) and from within a reference region (NF1 gene), we tested 50 CMT1A, 30 HNPP, and 50 unaffected individuals for the presence of a DNA duplication or deletion. Target:reference ratios of 1.58, 1.02, and 0.56 were detected for the CMT1A, unaffected, and HNPP groups, respectively. Thus, differentiation of the three groups of individuals was on the basis of gene copy number. This technique was successfully used to detect the difference in the X chromosome copy number between males and females (target:reference ratios of 1.1 and 2.3, respectively). This approach to the detection of DNA duplications and deletions is sensitive, accurate, and has potential applications in the quantitation of changes in gene copy number associated with diseases characterized by such chromosomal alterations." @default.
- W1937266112 created "2016-06-24" @default.
- W1937266112 creator A5047216638 @default.
- W1937266112 creator A5077466041 @default.
- W1937266112 date "1998-04-01" @default.
- W1937266112 modified "2023-09-26" @default.
- W1937266112 title "Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR" @default.
- W1937266112 cites W11789662 @default.
- W1937266112 cites W1930360211 @default.
- W1937266112 cites W1970837473 @default.
- W1937266112 cites W1972543680 @default.
- W1937266112 cites W1973224467 @default.
- W1937266112 cites W1983927889 @default.
- W1937266112 cites W1984817792 @default.
- W1937266112 cites W2013124920 @default.
- W1937266112 cites W2020114288 @default.
- W1937266112 cites W2025859952 @default.
- W1937266112 cites W2026537232 @default.
- W1937266112 cites W2037557604 @default.
- W1937266112 cites W2038930378 @default.
- W1937266112 cites W2055736292 @default.
- W1937266112 cites W2067727355 @default.
- W1937266112 cites W2069943574 @default.
- W1937266112 cites W2077022965 @default.
- W1937266112 cites W2093009120 @default.
- W1937266112 cites W2103256993 @default.
- W1937266112 cites W2141424564 @default.
- W1937266112 cites W2144899009 @default.
- W1937266112 cites W2144972963 @default.
- W1937266112 cites W2289260697 @default.
- W1937266112 cites W2323298291 @default.
- W1937266112 doi "https://doi.org/10.1093/clinchem/44.4.724" @default.
- W1937266112 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9554482" @default.
- W1937266112 hasPublicationYear "1998" @default.
- W1937266112 type Work @default.
- W1937266112 sameAs 1937266112 @default.
- W1937266112 citedByCount "32" @default.
- W1937266112 countsByYear W19372661122013 @default.
- W1937266112 countsByYear W19372661122020 @default.
- W1937266112 crossrefType "journal-article" @default.
- W1937266112 hasAuthorship W1937266112A5047216638 @default.
- W1937266112 hasAuthorship W1937266112A5077466041 @default.
- W1937266112 hasBestOaLocation W19372661121 @default.
- W1937266112 hasConcept C104317684 @default.
- W1937266112 hasConcept C120821319 @default.
- W1937266112 hasConcept C141231307 @default.
- W1937266112 hasConcept C150194340 @default.
- W1937266112 hasConcept C153911025 @default.
- W1937266112 hasConcept C176944494 @default.
- W1937266112 hasConcept C195286587 @default.
- W1937266112 hasConcept C49105822 @default.
- W1937266112 hasConcept C501734568 @default.
- W1937266112 hasConcept C54355233 @default.
- W1937266112 hasConcept C55548728 @default.
- W1937266112 hasConcept C7602840 @default.
- W1937266112 hasConcept C86803240 @default.
- W1937266112 hasConceptScore W1937266112C104317684 @default.
- W1937266112 hasConceptScore W1937266112C120821319 @default.
- W1937266112 hasConceptScore W1937266112C141231307 @default.
- W1937266112 hasConceptScore W1937266112C150194340 @default.
- W1937266112 hasConceptScore W1937266112C153911025 @default.
- W1937266112 hasConceptScore W1937266112C176944494 @default.
- W1937266112 hasConceptScore W1937266112C195286587 @default.
- W1937266112 hasConceptScore W1937266112C49105822 @default.
- W1937266112 hasConceptScore W1937266112C501734568 @default.
- W1937266112 hasConceptScore W1937266112C54355233 @default.
- W1937266112 hasConceptScore W1937266112C55548728 @default.
- W1937266112 hasConceptScore W1937266112C7602840 @default.
- W1937266112 hasConceptScore W1937266112C86803240 @default.
- W1937266112 hasLocation W19372661121 @default.
- W1937266112 hasLocation W19372661122 @default.
- W1937266112 hasOpenAccess W1937266112 @default.
- W1937266112 hasPrimaryLocation W19372661121 @default.
- W1937266112 hasRelatedWork W1937266112 @default.
- W1937266112 hasRelatedWork W1999543747 @default.
- W1937266112 hasRelatedWork W2046454993 @default.
- W1937266112 hasRelatedWork W2060395103 @default.
- W1937266112 hasRelatedWork W2150845008 @default.
- W1937266112 hasRelatedWork W2810139475 @default.
- W1937266112 hasRelatedWork W2973501115 @default.
- W1937266112 hasRelatedWork W2978278598 @default.
- W1937266112 hasRelatedWork W3083870051 @default.
- W1937266112 hasRelatedWork W4200440096 @default.
- W1937266112 isParatext "false" @default.
- W1937266112 isRetracted "false" @default.
- W1937266112 magId "1937266112" @default.
- W1937266112 workType "article" @default.