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Article: Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: No evidence for a major gene in this candidate region

TitleLinkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: No evidence for a major gene in this candidate region
Authors
Issue Date1993
Citation
Journal of Medical Genetics, 1993, v. 30, n. 5, p. 393-395 How to Cite?
AbstractA genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of - 2 were obtained with all these markers at recombination fractions greater or equal to 0-04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33.
Persistent Identifierhttp://hdl.handle.net/10722/220735
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820

 

DC FieldValueLanguage
dc.contributor.authorChung, E.-
dc.contributor.authorCoffey, R.-
dc.contributor.authorParker, K.-
dc.contributor.authorTam, P.-
dc.contributor.authorPembrey, M. E.-
dc.contributor.authorGardiner, R. M.-
dc.date.accessioned2015-10-16T06:50:24Z-
dc.date.available2015-10-16T06:50:24Z-
dc.date.issued1993-
dc.identifier.citationJournal of Medical Genetics, 1993, v. 30, n. 5, p. 393-395-
dc.identifier.issn0022-2593-
dc.identifier.urihttp://hdl.handle.net/10722/220735-
dc.description.abstractA genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of - 2 were obtained with all these markers at recombination fractions greater or equal to 0-04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33.-
dc.languageeng-
dc.relation.ispartofJournal of Medical Genetics-
dc.titleLinkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: No evidence for a major gene in this candidate region-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.pmid8320701-
dc.identifier.scopuseid_2-s2.0-0027276395-
dc.identifier.volume30-
dc.identifier.issue5-
dc.identifier.spage393-
dc.identifier.epage395-

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