| Insert |
DNA: cDNA Insert lengths(kb): 8.800000190734863 Tissue: endothelium Gene product: von Willebrand factor pseudogene [VWF] Alleles: K2, M1, A4, C1, C2, D1, D2, G1, G2, K1, K2, M1, M1, M2, A1, A2, A3, A5, A6, A7, A4, C1, C2, D1, D2, G1, G2, K1, M1, M2, A1, A2, A3, A5, A6, A7, M2, M2, , , , A1, A2, A1, A1, A2, A2 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI/SalI--9.4, 2.9; BamHI--5.8, 5.8; HindIII--6.6, 5.3; PstI--3.4, 1.8, 1.1, 0.8, + others; purified DNA: HindIII--6.64, 5.7; SacI--6.6, 3.8, 2.0; BamHI--6.2 doublet; EcoRI--14; EcoRI/SacI--3.8, 3.4, 3.0. 1.0. The insert contains the following singly cutting sites: BamHI, EcoRV, HgaI, HindIII, MspI, NaeI, PvuI, RshI, Tth111II, XbaI, XmaIII, XmnI, XorII. The following enzymes do not cut vW-8: AhaIII, AsuII, BclI, BssHII, HpaI, MluI, NdeI, NotI, NruI, SalI, SfiI, SnaBI. This is essentially a full-length cDNA clone except for about 150 bp 5' untranslated and 100 bp 3' untranslated sequence. There seems to be a partial pseudogene for VWF detected by sequences from about 2.5-4.5 kb of the cDNA. For unique sequence probes from the 5' end, EcoRI/HindIII or EcoRI/BglII or EcoRI/XmaIII fragments are useful. For unique sequence probes from the 3' end, the fragment from NarI or XmnI to SalI (in the polylinker) is useful. Sequences at the 3' end show homology to vole, rat, hamster, monkey, and mouse but not quail. Codominant segregation for the TaqI polymorphism has been demonstrated in 4 families. The BamHI polymorphism is detected with a 1.9 kb SacI fragment of the cDNA. The EcoRI polymorphism is detected by a 3.6 kb XmnI/SalI fragment of this clone. Enzyme(s) not detecting polymorphism (for the 1.9 kb SacI fragment probe): AvaI, BglII, BstEII, DraI, EcoRI, HindIII, KpnI, PstI (tested in 13-15 unrelated Caucasians). Enzyme(s) not detecting polymorphism: BglII, EcoRI, SacI, TaqI. |
| References |
Marchetti G, et al. Two additional TaqI RFLPs in von Willebrand factor gene (VWF) and pseudogene. Nucleic Acids Res. 17: 3329, 1989. PubMed: 2566970
Ewerhardt B, et al. An EcoRI polymorphism in the human von Willebrand factor (vWF) gene. Nucleic Acids Res. 17: 5416, 1989. PubMed: 2569713
Driscoll CM, et al. A KpnI DNA polymorphism in the human von Willebrand factor (VWF) gene. Nucleic Acids Res. 18: 4968, 1990. PubMed: 1975687
Bernardi F, et al. Two TaqI RFLPs in the human von Willebrand factor gene. Nucleic Acids Res. 15: 1347, 1987. PubMed: 2881274
Nishino K, Lynch DC. A polymorphism of the human von Willebrand factor (vWF) gene with BamHI. Nucleic Acids Res. 14: 4697, 1986. PubMed: 3012477
Collins CJ, et al. Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site. Proc. Natl. Acad. Sci. USA 84: 4393-4397, 1987. PubMed: 3496594
Bonthron D, et al. Nucleotide sequence of pre-pro-von Willebrand factor cDNA. Nucleic Acids Res. 14: 7125-7127, 1986. PubMed: 3489923
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