Practical Application of Three Polymorphic Microsatellites in Intron 40 of the Human von Willebrand Factor Gene
作者:
Pilar Casaña,
Francisco Martinez,
José Antonio Aznar,
José Ignacio Lorenzo,
Juan Ignacio Jorquera,
期刊:
Pathophysiology of Haemostasis and Thrombosis
(Karger Available online 1995)
卷期:
Volume 25,
issue 6
页码: 264-271
ISSN:1424-8832
年代: 1995
DOI:10.1159/000217171
出版商: S. Karger AG
关键词: von Willebrand disease;Variable number tandem repeat;Tetranucleotide repeat polymorphism;Heterozygosity;Allele frequencies
数据来源: Karger
摘要:
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 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 familie
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