Document Detail


Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.
MedLine Citation:
PMID:  8586316     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Intron 40 of the human von Willebrand factor gene contains a region with variable-number tandem repeats (VNTR), type (ATCT)n, showing length polymorphism. In order to carry out family studies of von Willebrand's disease, we performed PCR procedures to analyze 3 previously described microsatellites from that region, both in normal individuals and in von Willebrand disease patients. Three pairs of primers were used to amplify independently nucleotides 1890-1991 (VNTR 1), 2215-2380 (VNTR 2) and 1640-1794 (VNTR 3) from intron 40. The observed heterozygosities (0.75, 0.73 and 0.86 for VNTRs 1, 2 and 3, respectively) were in good agreement with the expected heterozygosities derived from the allele frequencies (0.70, 0.73 and 0.79, respectively). Furthermore, the combination of the 3 VNTRs showed 96% of heterozygosity, which correspond with the 98% expected value under linkage equilibrium. Therefore, our conclusion is that the use of these 3 markers, especially VNTR 3, constitutes a rapid and reliable method for performing segregation studies in von Willebrand disease families.
Authors:
P Casaña; F Martinez; J A Aznar; J I Lorenzo; J I Jorquera
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Haemostasis     Volume:  25     ISSN:  0301-0147     ISO Abbreviation:  Haemostasis     Publication Date:    1995 Nov-Dec
Date Detail:
Created Date:  1996-03-22     Completed Date:  1996-03-22     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0371574     Medline TA:  Haemostasis     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  264-71     Citation Subset:  IM    
Affiliation:
Unidad de Coagulopatías, Congéneticas de la Comunidad Valenciana, España.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
Case-Control Studies
DNA / genetics
Female
Gene Frequency
Genes, Dominant
Genotype
Heterozygote
Humans
Introns*
Linkage Disequilibrium
Male
Microsatellite Repeats*
Molecular Sequence Data
Pedigree
Polymorphism, Genetic*
von Willebrand Diseases / genetics*
von Willebrand Factor / genetics*
Chemical
Reg. No./Substance:
0/von Willebrand Factor; 9007-49-2/DNA

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


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