Document Detail


Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
MedLine Citation:
PMID:  7485156     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alagille syndrome (AGS) is a clinically defined disorder characterized by cholestatic liver disease with bile duct paucity, peculiar facies, structural heart defects, vertebral anomalies, and ocular abnormalities. Multiple patients with various cytogenetic abnormalities involving 20p12 have been identified, allowing the assignment of AGS to this region. The presence of interstitial deletions of varying size led to the hypothesis that AGS is a contiguous gene deletion syndrome. This molecular analysis of cytogenetically normal AGS patients was performed in order to test this hypothesis and to refine the localization of the known AGS region. Investigation of inheritance of simple tandem repeat polymorphism alleles in 67 members of 24 cytogenetically normal Alagille families led to the identification of a single submicroscopic deletion. The deletion included loci D20S61, D20S41, D20S186, and D20S188 and presumably intervening uninformative loci D20S189 and D20S27. The six deleted loci are contained in a single YAC of 1.9 Mb. The additional finding of multiple unrelated probands who are heterozygous at each locus demonstrates that microdeletions at known loci within the AGS region are rare in cytogenetically normal patients with this disorder. This suggests that the majority of cases of AGS may be the result of a single gene defect rather than a contiguous gene deletion syndrome.
Authors:
E B Rand; N B Spinner; D A Piccoli; P F Whitington; R Taub
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  57     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Nov 
Date Detail:
Created Date:  1995-11-30     Completed Date:  1995-11-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1068-73     Citation Subset:  IM    
Affiliation:
Division of Gastroenterology and Nutrition, Children's Hospital of Philadelphia, PA 19104, USA.
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MeSH Terms
Descriptor/Qualifier:
Alagille Syndrome / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 20*
Female
Gene Deletion
Genotype
Humans
Male
Pedigree
Grant Support
ID/Acronym/Agency:
K12-HD00850/HD/NICHD NIH HHS; P30-28815//PHS HHS
Comments/Corrections
Comment In:
Am J Hum Genet. 1996 Aug;59(2):477-8   [PMID:  8755938 ]

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