| Insert |
DNA: cDNA Insert lengths(kb): 1.580000042915344 Tissue: liver Gene product: cholesteryl ester transfer protein, plasma [CETP] Alleles: C1, C2, A1, S1, A2, B1, B2, E1, E2, S2 |
| Comments |
Restriction digests of the clone give the following sizes (kb): EcoRI--2.7, 1.7; BglII--3.2, 1.1; PvuII--2.4, 1.0, 0.54, 0.36; NdeI--4.5; BglI--3.9, 0.47. Codominant segregation of both TaqI polymorphisms in 4 families (29 individuals). TaqIA and TaqIB polymorphisms exhibit a large degree of linkage equilibrium; no recombination between the two has been shown. Contains the CETP coding sequence from amino acid 9 of the mature protein through the 3' untranslated sequence, ending with 17 residues of polyA. Four haplotypes with frequencies 0.06 to 0.44. S1/S2 alleles are difficult to detect with the entire probe. A 732 bp PstI/PvuII fragment detects the same polymorphism and the 3.4 kb invariant band. TaqIA RFLP hybridizes much more strongly than the TaqIB RFLP. The MspI RFLP is quite sensitive to incomplete digestion. Enzyme(s) not detecting polymorphism: BclI, BglII, BstEII, EcoRI, EcoRV, HindIII, PstI, PvuII and SacI. Enzyme(s) not detecting polymorphism: ApaLI, Asp718, BglII, BsmI, HincII, NcoI, NdeI, PstI, SacI, ScaI, SphI, StuI (in 6 unrelated individuals). |
| References |
Drayna D, et al. Cloning and sequencing of human cholesteryl ester transfer protein cDNA. Nature 327: 632-634, 1987. PubMed: 3600759
Drayna D, Lawn R. Multiple RFLPs at the human cholesteryl ester transfer protein (CETP) locus. Nucleic Acids Res. 15: 4698, 1987. PubMed: 2884631
Lusis AJ, et al. Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21. Genomics 1: 232-235, 1987. PubMed: 3446583
Freeman D, et al. An StuI RFLP at the human cholesteryl ester transfer protein (CETP) locus. Nucleic Acids Res. 17: 2880, 1989. PubMed: 2566155
Julier C, et al. A primary map of 24 loci on human chromosome 16. Genomics 6: 419-427, 1990. PubMed: 2328986
Kinzler KW, Vogelstein B. EcoRI polymorphism within the GLI gene (chromosome 12q13.3-14.1). Nucleic Acids Res. 18: 2834, 1990. PubMed: 1971098
Dennis T Drayna, personal communication
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