Casaña P, Martinez F, Aznar J A, Lorenzo J I, Jorquera J I
Unidad de Coagulopatías, Congéneticas de la Comunidad Valenciana, España.
Haemostasis. 1995 Nov-Dec;25(6):264-71. doi: 10.1159/000217171.
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.
人类血管性血友病因子基因的第40内含子包含一个具有可变数目串联重复序列（VNTR）的区域，类型为（ATCT）n，呈现长度多态性。为了开展血管性血友病的家系研究，我们进行了聚合酶链反应（PCR）实验，以分析该区域3个先前已描述的微卫星，实验对象包括正常个体和血管性血友病患者。使用三对引物分别扩增第40内含子中的核苷酸1890 - 1991（VNTR 1）、2215 - 2380（VNTR 2）和1640 - 1794（VNTR 3）。观察到的杂合度（VNTR 1、2和3分别为0.75、0.73和0.86）与根据等位基因频率得出的预期杂合度（分别为0.70、0.73和0.79）高度一致。此外，这3个VNTR的组合显示出96%的杂合度，这与连锁平衡下98%的预期值相符。因此，我们的结论是，使用这3个标记，尤其是VNTR 3，构成了一种在血管性血友病家系中进行分离研究的快速且可靠的方法。
