Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1996-3-22
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0301-0147
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
25
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
264-71
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:8586316-Alleles,
pubmed-meshheading:8586316-Base Sequence,
pubmed-meshheading:8586316-Case-Control Studies,
pubmed-meshheading:8586316-DNA,
pubmed-meshheading:8586316-Female,
pubmed-meshheading:8586316-Gene Frequency,
pubmed-meshheading:8586316-Genes, Dominant,
pubmed-meshheading:8586316-Genotype,
pubmed-meshheading:8586316-Heterozygote,
pubmed-meshheading:8586316-Humans,
pubmed-meshheading:8586316-Introns,
pubmed-meshheading:8586316-Linkage Disequilibrium,
pubmed-meshheading:8586316-Male,
pubmed-meshheading:8586316-Microsatellite Repeats,
pubmed-meshheading:8586316-Molecular Sequence Data,
pubmed-meshheading:8586316-Pedigree,
pubmed-meshheading:8586316-Polymorphism, Genetic,
pubmed-meshheading:8586316-von Willebrand Diseases,
pubmed-meshheading:8586316-von Willebrand Factor
|
| pubmed:articleTitle |
Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.
|
| pubmed:affiliation |
Unidad de Coagulopatías, Congéneticas de la Comunidad Valenciana, España.
|
| pubmed:publicationType |
Journal Article
|