Four novel germline mutations of the APC gene
Dagan Wells
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Search for more papers by this authorPamela Chapman
The Northern Region Polyposis Registry, Division of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA, UK
Search for more papers by this authorJudith C. Landgrebe
The Polyposis Registry, St. Marks Hospital, London ECIV 2PS, UK; Fax: 44-171-383-2048
Search for more papers by this authorKatia Tsioupra
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Search for more papers by this authorCorresponding Author
Joy D.A. Delhanty
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Department of Genetics and Biometry, University College London, London NW1 2HE, UKSearch for more papers by this authorDagan Wells
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Search for more papers by this authorPamela Chapman
The Northern Region Polyposis Registry, Division of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA, UK
Search for more papers by this authorJudith C. Landgrebe
The Polyposis Registry, St. Marks Hospital, London ECIV 2PS, UK; Fax: 44-171-383-2048
Search for more papers by this authorKatia Tsioupra
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Search for more papers by this authorCorresponding Author
Joy D.A. Delhanty
Department of Genetics and Biometry, University College London, London NW1 2HE, UK
Department of Genetics and Biometry, University College London, London NW1 2HE, UKSearch for more papers by this author
References
- Ando H, Miyoshi Y, Nagase H, Baba S, Nakamura Y (1993) Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polvmerase chain reaction. Gastroenterology 104: 989–993.
- Breathnach R, Benoist C, O'Hare K, Gannon F, Chambon P (1987) Ovalbumin gene evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries. Proc. Natl. Acad. Sci. USA 75: 4853–4857.
- Burn J, Chapman P, Delhanty J, Wood C, Lallo F, Cachon-Gonzalez M, Tsioupra K, Church W, Rhodes M, Gunn A (1991) The UK Northern Region genetic register for familial adenomatous polyposis coli: Use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J. Med. Genet. 28: 289–296.
- Bussey HJR (1975) Familial Polyposis Coli. Baltimore: Johns Hopkins University Press.
- Gayther SA, Wells D, Sen Gupta SB, Chapman P, Neale K, Tsioupra K, Delhanty JDA (1994) Regionally clustered APC mutations are associated with a severe phenoptype and occur at high frequency in new mutation cases of adenomatous polyposis coli. Hum. Molec. Genet. 3: 53–56.
- 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, Hughest JP, Warrington J, McPherson J, Le Paslier D, Adberrahim H, Cohen D, Leppert M, White R (1991) Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals. Cell 66: 589–600.
- Kinzler KW, Nilbert MC, Su L, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D, Finniear R, Markham A, Groffen J, Boguski MS, Altschul SF, Horri A, Ando H, Miyoshi Y, Nishisho I, Nakamura Y (1991) Identification of FAP locus genes from 5q21. Science 253: 661–665.
- March RE, Hollyoake M, Putt W, Hopkinson DA, Edwards YH, Whitehouse DB (1993) Genetic polymorphism in the 3′ untranslated region of human phosphoglucomutase-1. Ann. Hum. Genet. 57: 1–8.
- Nagase H, Miyoshi Y, Horri A, Aoki T, Ogawa M, Utsunomiya J, Baba S, Sasazuki T, Nakamura Y (1992) Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients. Cancer Res. 52: 4055–4057.
- Olschwang S, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G (1993) Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell 75: 959–968.
- Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989a) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86: 2766–2770.
- Orita M, Suzuki Y, Sekiya T, Hayashi K (1989b) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874–879.
- Spirio L, Nelson L, Ward K, Burt R, White R, Leppert M (1993) A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC. Am. J. Hum. Genet. 52: 286–296.
- Treisman R, Proudfoot NJ, Shander M, Maniatis T (1982) A single-base change at a splice site in Bº-thalassemic gene causes abnormal RNA splicing. Cell 29: 903–911.