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Article: Mapping of a Hirschsprung's disease locus in 3p21
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TitleMapping of a Hirschsprung's disease locus in 3p21
 
AuthorsGarciaBarceló, MM3
Fong, PY3
Tang, CS1
Miao, XP3
So, MT3
Yuan, ZW2
Li, L6
Guo, WH6
Liu, L5
Wang, B5
Sun, XB8
Huang, LM7
Tou, JF4
Wong, KKY3
Ngan, ESW3
Lui, VCH3
Cherny, SS3 1
Sham, PC3 1
Tam, PKH3
 
Issue Date2008
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
CitationEuropean Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2008.18
 
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.
 
ISSN1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
DOIhttp://dx.doi.org/10.1038/ejhg.2008.18
 
ISI Accession Number IDWOS:000256857400010
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorGarciaBarceló, MM
 
dc.contributor.authorFong, PY
 
dc.contributor.authorTang, CS
 
dc.contributor.authorMiao, XP
 
dc.contributor.authorSo, MT
 
dc.contributor.authorYuan, ZW
 
dc.contributor.authorLi, L
 
dc.contributor.authorGuo, WH
 
dc.contributor.authorLiu, L
 
dc.contributor.authorWang, B
 
dc.contributor.authorSun, XB
 
dc.contributor.authorHuang, LM
 
dc.contributor.authorTou, JF
 
dc.contributor.authorWong, KKY
 
dc.contributor.authorNgan, ESW
 
dc.contributor.authorLui, VCH
 
dc.contributor.authorCherny, SS
 
dc.contributor.authorSham, PC
 
dc.contributor.authorTam, PKH
 
dc.date.accessioned2010-05-31T03:56:25Z
 
dc.date.available2010-05-31T03:56:25Z
 
dc.date.issued2008
 
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.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationEuropean Journal Of Human Genetics, 2008, v. 16 n. 7, p. 833-840 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2008.18
 
dc.identifier.citeulike2406275
 
dc.identifier.doihttp://dx.doi.org/10.1038/ejhg.2008.18
 
dc.identifier.epage840
 
dc.identifier.hkuros144570
 
dc.identifier.isiWOS:000256857400010
 
dc.identifier.issn1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
dc.identifier.issue7
 
dc.identifier.openurl
 
dc.identifier.pmid18285831
 
dc.identifier.scopuseid_2-s2.0-45749144781
 
dc.identifier.spage833
 
dc.identifier.urihttp://hdl.handle.net/10722/59739
 
dc.identifier.volume16
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofEuropean Journal of Human Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.titleMapping of a Hirschsprung's disease locus in 3p21
 
dc.typeArticle
 
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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