Document Detail


DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
MedLine Citation:
PMID:  8044654     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The diagnosis of Marfan syndrome (MFS) is still based on careful clinical examination. There are, however, many factors creating problems in the firm establishment of the correct diagnosis. After the identification of the defective gene in MFS, fibrillin 1 (FBN1), several mutations in this gene have been reported. Since so far all but one of the mutations in FBN1 have been family specific, a common diagnostic DNA test for all MFS patients is not to be expected in the near future. Here, we have utilized four polymorphic markers in the diagnostics in MFS families from different populations. Two of the markers, FBN1a and a novel FBN1b, are intragenic markers of FBN1 and two others, D15S103 (G113) and CYP19, are very close to and most probably flank FBN1. The combined use of the multiallelic markers proved highly useful in MFS diagnostics providing informativeness in all analysed families.
Authors:
T Rantamäki; L Lönnqvist; L Karttunen; K Kainulainen; L Peltonen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  2     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  1994  
Date Detail:
Created Date:  1994-08-30     Completed Date:  1994-08-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  66-75     Citation Subset:  IM    
Affiliation:
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Base Sequence
Child
Chromosomes, Human, Pair 15
DNA Mutational Analysis / methods*
DNA Primers
Female
Genetic Markers
Genotype
Humans
Infant, Newborn
Linkage (Genetics)
Male
Marfan Syndrome / diagnosis*,  genetics*
Microfilament Proteins / genetics*
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic*
Sequence Deletion
Chemical
Reg. No./Substance:
0/DNA Primers; 0/Genetic Markers; 0/Microfilament Proteins; 0/fibrillin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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