The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic sequences to identify polymorphic sites at nucleotide positions 1458 and 5037 of the APC gene.
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Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, LePaslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and charactrerization of the familial adenomatous polyposis coli gene. Cell 66:589–600
Joslyn G, Carlson M, Thliveris A, Albertsen H, Gelbert L, Samowitz W, Groden J, Stevens J, Spirio L, Robertson M, Sargeant L, Krapcho K, Wolff E, Burt R, Hughes JP, Warrington J, McPherson J, Wasmuth J, LePaslier D, Abderrahim H, Cohen D, Leppert M, White R (1991) Identification and deletion mutations and three new genes at the familial polyposis locus. Cell 66:601–613
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Kraus, C., Ballhausen, W.G. Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion. Hum Genet 88, 705–706 (1992). https://doi.org/10.1007/BF02265305
- Internal Medicine
- Genomic Sequence
- Metabolic Disease
- Enzymatic Digestion