Allelic Frequencies Of Three Vntrs In Intron 40 Of The Human Von Willebrand Factor Gene In Types 1, 2, And 3 Von Willebrand Disease Patients And Controls Of A Brazilian Population.

dc.creatorMazzini, J
dc.creatorHackel, C
dc.creatorAnnichino-Bizzacchi, J M
dc.date2000-Dec
dc.date2015-11-27T12:22:49Z
dc.date2015-11-27T12:22:49Z
dc.date.accessioned2018-03-29T00:54:37Z
dc.date.available2018-03-29T00:54:37Z
dc.identifierThrombosis Research. v. 100, n. 6, p. 489-94, 2000-Dec.
dc.identifier0049-3848
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/11152928
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194653
dc.identifier11152928
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294886
dc.descriptionIntron 40 of the human von Willebrand factor (vWF) gene contains a polymorphic region with three variable-number tandem repeats (VNTRs), type (ATCT)n. In the present report, we evaluated the allelic frequencies of these three VNTRs in a population constituted by 51 Brazilian Caucasian and 25 Types 1, 2, and 3 von Willebrand disease (vWD) patients, and performed segregation analysis in eight families affected by vWD Types 1 and 2. Three pairs of primers were used to amplify independently nucleotides 1640-1794 (VNTR 3), 1890-1991 (VNTR 1), and 2215-2396 (VNTR 2) from intron 40. The observed heterozygosities (0.86, 0.66, and 0.66 for VNTRs 3, 1, and 2, respectively) were in accordance with the expected heterozygosities derived from the allele frequencies (0.81, 0.64, and 0.70, respectively). Although the three VNTRs were highly polymorphic, VNTR 3 showed the highest values of heterozygosity [Haemostasis 25 (1995) 264; Hum. Mol. Genet. 1 (1992) 287.].
dc.description100
dc.description489-94
dc.languageeng
dc.relationThrombosis Research
dc.relationThromb. Res.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAlleles
dc.subjectBrazil
dc.subjectEuropean Continental Ancestry Group
dc.subjectFamily Health
dc.subjectFemale
dc.subjectGene Frequency
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectIntrons
dc.subjectMale
dc.subjectPedigree
dc.subjectPolymerase Chain Reaction
dc.subjectTandem Repeat Sequences
dc.subjectVon Willebrand Diseases
dc.subjectVon Willebrand Factor
dc.titleAllelic Frequencies Of Three Vntrs In Intron 40 Of The Human Von Willebrand Factor Gene In Types 1, 2, And 3 Von Willebrand Disease Patients And Controls Of A Brazilian Population.
dc.typeArtículos de revistas


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