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Article: Mapping of a Hirschsprung's disease locus in 3p21

TitleMapping of a Hirschsprung's disease locus in 3p21
Authors
Issue Date2008
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840 How to Cite?
Abstract
Hirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6Mb of the 3p21 region. A five-marker haplotype, spanning a 118kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent sample of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.
Persistent Identifierhttp://hdl.handle.net/10722/59739
ISSN
2013 Impact Factor: 4.225
2013 SCImago Journal Rankings: 1.909
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. China Medical University Shenyang
  3. The University of Hong Kong
  4. Zhejiang Children's Hospital
  5. Shenzhen People's Hospital
  6. Beijing Children's Hospital
  7. Peking University
  8. Shandong University School of Medicine
DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorFong, PYen_HK
dc.contributor.authorTang, CSen_HK
dc.contributor.authorMiao, XPen_HK
dc.contributor.authorSo, MTen_HK
dc.contributor.authorYuan, ZWen_HK
dc.contributor.authorLi, Len_HK
dc.contributor.authorGuo, WHen_HK
dc.contributor.authorLiu, Len_HK
dc.contributor.authorWang, Ben_HK
dc.contributor.authorSun, XBen_HK
dc.contributor.authorHuang, LMen_HK
dc.contributor.authorTou, JFen_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorNgan, ESWen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-05-31T03:56:25Z-
dc.date.available2010-05-31T03:56:25Z-
dc.date.issued2008en_HK
dc.identifier.citationEuropean Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840en_HK
dc.identifier.issn1018-4813en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59739-
dc.description.abstractHirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be necessary for transmission of the short HSCR (S-HSCR) phenotype. We investigated 6Mb of the 3p21 region on a quest for the HSCR-susceptibility locus. Fifty-eight S-HSCR case-parent trios were genotyped using Sequenom technology for 214 tag single nucleotide polymorphisms (SNPs) distributed along 6Mb of the 3p21 region. A five-marker haplotype, spanning a 118kb gene-rich region, was found to be overtransmitted to affected offspring. The associated haplotype encompasses three genes involved in neurological phenotypes. Importantly, this association was replicated in an independent sample of 172 S-HSCR cases and 153 unrelated controls. Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_HK
dc.relation.ispartofEuropean Journal of Human Geneticsen_HK
dc.titleMapping of a Hirschsprung's disease locus in 3p21en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1018-4813&volume=16&spage=833&epage=840&date=2008&atitle=Mapping+of+a+Hirschsprung%27s+disease+locus+in+3p21en_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hku.hken_HK
dc.identifier.emailWong, KKY: kkywong@hku.hken_HK
dc.identifier.emailNgan, ESW: engan@hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityWong, KKY=rp01392en_HK
dc.identifier.authorityNgan, ESW=rp00422en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/ejhg.2008.18en_HK
dc.identifier.pmid18285831en_HK
dc.identifier.scopuseid_2-s2.0-45749144781en_HK
dc.identifier.hkuros144570en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-45749144781&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume16en_HK
dc.identifier.issue7en_HK
dc.identifier.spage833en_HK
dc.identifier.epage840en_HK
dc.identifier.isiWOS:000256857400010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridFong, PY=12242921700en_HK
dc.identifier.scopusauthoridTang, CS=35764635500en_HK
dc.identifier.scopusauthoridMiao, XP=7102585391en_HK
dc.identifier.scopusauthoridSo, MT=8748542200en_HK
dc.identifier.scopusauthoridYuan, ZW=8672008500en_HK
dc.identifier.scopusauthoridLi, L=7501448457en_HK
dc.identifier.scopusauthoridGuo, WH=35285430300en_HK
dc.identifier.scopusauthoridLiu, L=15755841400en_HK
dc.identifier.scopusauthoridWang, B=8922803000en_HK
dc.identifier.scopusauthoridSun, XB=16833911300en_HK
dc.identifier.scopusauthoridHuang, LM=12647222900en_HK
dc.identifier.scopusauthoridTou, JF=7006759358en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridNgan, ESW=22234827500en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK
dc.identifier.citeulike2406275-

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