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Article: A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3

TitleA genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3
Authors
Issue Date2002
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 2002, v. 71 n. 2, p. 401-406 How to Cite?
AbstractAdolescent idiopathic scoliosis (ALS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was performed. Multipoint linkage analysis by GENEHUNTER revealed significant linkage of the abnormal phenotype to the distal short arm of chromosome 19, with both a maximum multipoint LOD score and a nonparametric LOD score of 4.93. Two-point linkage analysis by MLINK gave a LOD score of 3.63 (recombination fraction θ [m=f] = 0.00) at D19S216. Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3.
Persistent Identifierhttp://hdl.handle.net/10722/44970
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_HK
dc.contributor.authorFong, GCYen_HK
dc.contributor.authorLuk, KDKen_HK
dc.contributor.authorYip, Ben_HK
dc.contributor.authorLee, MKen_HK
dc.contributor.authorWong, MSen_HK
dc.contributor.authorLu, DDSen_HK
dc.contributor.authorChan, TKen_HK
dc.date.accessioned2007-10-30T06:14:41Z-
dc.date.available2007-10-30T06:14:41Z-
dc.date.issued2002en_HK
dc.identifier.citationAmerican Journal Of Human Genetics, 2002, v. 71 n. 2, p. 401-406en_HK
dc.identifier.issn0002-9297en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44970-
dc.description.abstractAdolescent idiopathic scoliosis (ALS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was performed. Multipoint linkage analysis by GENEHUNTER revealed significant linkage of the abnormal phenotype to the distal short arm of chromosome 19, with both a maximum multipoint LOD score and a nonparametric LOD score of 4.93. Two-point linkage analysis by MLINK gave a LOD score of 3.63 (recombination fraction θ [m=f] = 0.00) at D19S216. Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3.en_HK
dc.format.extent185751 bytes-
dc.format.extent505010 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_HK
dc.relation.ispartofAmerican Journal of Human Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsAmerican Journal of Human Genetics. Copyright © University of Chicago Press.en_HK
dc.subject.meshChromosomes,-Human,-Pair-19en_HK
dc.subject.meshScoliosis-geneticsen_HK
dc.titleA genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0002-9297&volume=71&issue=2&spage=401&epage=406&date=2002&atitle=A+genetic+locus+for+adolescent+idiopathic+scoliosis+linked+to+chromosome+19p13.3en_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.emailLuk, KDK:hcm21000@hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.identifier.authorityLuk, KDK=rp00333en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1086/341607en_HK
dc.identifier.pmid12094330-
dc.identifier.pmcidPMC379172-
dc.identifier.scopuseid_2-s2.0-0036074126en_HK
dc.identifier.hkuros80499-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036074126&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume71en_HK
dc.identifier.issue2en_HK
dc.identifier.spage401en_HK
dc.identifier.epage406en_HK
dc.identifier.isiWOS:000176977700018-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK
dc.identifier.scopusauthoridFong, GCY=7004978754en_HK
dc.identifier.scopusauthoridLuk, KDK=7201921573en_HK
dc.identifier.scopusauthoridYip, B=16685586100en_HK
dc.identifier.scopusauthoridLee, MK=7409123051en_HK
dc.identifier.scopusauthoridWong, MS=35773949100en_HK
dc.identifier.scopusauthoridLu, DDS=7403079499en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK

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