Haplotype comparison in fresh mutation cases of adenomatous polyposis coli due to deletion AAAGA at codon 1309
- 1 January 1995
- journal article
- research article
- Published by Wiley in Annals of Human Genetics
- Vol. 59 (1) , 39-42
- https://doi.org/10.1111/j.1469-1809.1995.tb01604.x
Abstract
To determine whether the common 5 base pair deletion (delta AAAGA) at codon 1309 of the APC gene occurs preferentially on a particular haplotype background, three intragenic polymorphisms were typed using the polymerase chain reaction in ten patients with this deletion as the disease-causing mutation. Each case was due to fresh mutation. The data obtained provide no evidence in support of a preferential haplotype predisposing to this mutation.Keywords
This publication has 11 references indexed in Scilit:
- Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancerThe Lancet, 1994
- Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coliHuman Molecular Genetics, 1994
- Slippery DNA and diseasesNature, 1993
- Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposisHuman Molecular Genetics, 1993
- Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomasThe Lancet, 1992
- Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresisGenomics, 1992
- Two Mspl polymorphisms within the APC geneHuman Molecular Genetics, 1992
- Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestionHuman Genetics, 1992
- Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patientsHuman Mutation, 1992
- Sspl polymorphism in sequence encoding 3′ untranslated region of the APC geneNucleic Acids Research, 1991