{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:58:44Z","timestamp":1777946324130,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,4,28]],"date-time":"2009-04-28T00:00:00Z","timestamp":1240876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,4,28]],"date-time":"2009-04-28T00:00:00Z","timestamp":1240876800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemostasis"],"abstract":"<jats:p>Intron 40 of the human von Willebrand factor gene contains a region with variable-number tandem repeats (VNTR), type (ATCT)&lt;sub&gt;n&lt;\/sub&gt;, showing length polymorphism. In order to carry out family studies of von Willebrand\u2019s disease, we performed PCR procedures to analyze 3 previously described microsatellites from that region, both in normal individuals and in von WiUebrand 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 WiUebrand disease families.<\/jats:p>","DOI":"10.1159\/000217171","type":"journal-article","created":{"date-parts":[[2009,4,29]],"date-time":"2009-04-29T10:05:34Z","timestamp":1240999534000},"page":"264-271","source":"Crossref","is-referenced-by-count":0,"title":["Practical Application of Three Polymorphic Microsatellites in Intron 40 of the Human von Willebrand Factor Gene"],"prefix":"10.1159","author":[{"given":"Pilar","family":"Casa\u00f1a","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Antonio","family":"Aznar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ignacio","family":"Lorenzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Ignacio","family":"Jorquera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,4,28]]},"container-title":["Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/217171","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000217171","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T16:45:08Z","timestamp":1777740308000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000217171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,28]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000217171","archive":["Portico"],"relation":{},"ISSN":["0301-0147","1423-0038"],"issn-type":[{"value":"0301-0147","type":"print"},{"value":"1423-0038","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,28]]}}}