Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/4435
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dc.contributorDepartment of Health Technology and Informatics-
dc.creatorYip, SP-
dc.creatorLeung, KH-
dc.creatorFung, WY-
dc.creatorNg, PW-
dc.creatorSham, PC-
dc.creatorYap, KHM-
dc.date.accessioned2014-12-11T08:28:43Z-
dc.date.available2014-12-11T08:28:43Z-
dc.identifier.issn1090-0535-
dc.identifier.urihttp://hdl.handle.net/10397/4435-
dc.language.isoenen_US
dc.rights© 2011 Molecular Vision. Reproduced with permission of the publisher.en_US
dc.subjectCollagen type 11en_US
dc.subjectCollagen type 11 alpha 1en_US
dc.subjectFibrillin 1en_US
dc.subjectProcollagen lysine 2 oxoglutarate 5 dioxygenaseen_US
dc.subjectProcollagen lysine 2 oxoglutarate 5 dioxygenase 1en_US
dc.subjectUnclassified drugen_US
dc.subjectCase control studyen_US
dc.subjectChineseen_US
dc.subjectControlled studyen_US
dc.subjectDNA determinationen_US
dc.subjectGene frequencyen_US
dc.subjectGenetic associationen_US
dc.subjectGenetic susceptibilityen_US
dc.subjectGenotypeen_US
dc.subjectHigh performance liquid chromatographyen_US
dc.subjectMajor clinical studyen_US
dc.subjectMyopiaen_US
dc.subjectSingle nucleotide polymorphismen_US
dc.titleA DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese populationen_US
dc.typeJournal/Magazine Articleen_US
dc.description.otherinformationAuthor name used in this publication: Maurice K. H. Yapen_US
dc.identifier.spage810-
dc.identifier.epage821-
dc.identifier.volume17-
dcterms.abstractPurpose: We examined the relationship between high myopia and common polymorphisms in four candidate genes: collagen, type XI, alpha 1 (COL11A1); collagen, type XVIII, alpha 1 (COL18A1); fibrillin 1 (FBN1); and procollagen-lysine 1,2-oxoglutarate 5-dioxygenase 1 (PLOD1). These genes were selected because rare pathogenic mutations in these genes cause disease syndromes that have myopia, usually high myopia, as one of the common presenting features.-
dcterms.abstractMethods: This study recruited 600 unrelated Han Chinese subjects including 300 cases with high myopia (spherical equivalent or SE≤-8.00 diopters) and 300 controls (SE within ±1.00 diopter). A total of 66 tag single nucleotide polymorphisms (SNPs) were selected for study from these four candidate genes. The study adopted a DNA pooling strategy with an initial screen of DNA pools to identify putatively positive SNPs and then confirmed the “positive” SNPs by genotyping individual samples forming the original DNA pools. DNA pools were each constructed by mixing equal amounts of DNA from 50 individuals with the same phenotype status. Six case pools were prepared from 300 cases and six control pools from 300 controls. Allele frequencies of DNA pools were estimated by analyzing the primer-extended products with denaturing high performance liquid chromatography and compared between case pools and control pools with nested ANOVA.-
dcterms.abstractResults: In the first stage, 60 SNPs from the 4 candidate genes were successfully screened using the DNA pooling approach. Of these, 6 SNPs showed a statistical significant difference in estimated allele frequencies between case pools and controls at p<0.10. In the second stage, these “positive” SNPs were followed up by individual genotyping, but failed to be confirmed via standard single-marker and haplotype analyses.-
dcterms.abstractConclusions: Common polymorphisms in these four candidate genes (COL11A1, COL18A1, FBN1 and PLOD1) were unlikely to play important roles in the genetic susceptibility to high myopia.-
dcterms.accessRightsopen accessen_US
dcterms.bibliographicCitationMolecular vision, 26 Mar. 2011, v. 17, p. 810-821-
dcterms.isPartOfMolecular vision-
dcterms.issued2011-03-26-
dc.identifier.isiWOS:000288947800002-
dc.identifier.scopus2-s2.0-79955618723-
dc.identifier.pmid21527992-
dc.identifier.rosgroupidr51635-
dc.description.ros2010-2011 > Academic research: refereed > Publication in refereed journal-
dc.description.oaVersion of Recorden_US
dc.identifier.FolderNumberOA_IR/PIRAen_US
dc.description.pubStatusPublisheden_US
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