title: Haplotype comparison in fresh mutation cases of adenomatous polyposis coli due to deletion AAAGA at codon 1309.
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.
authors.affiliation: Galton Laboratory, Department of Genetics and Biometry, University College, London.
authors.forename: J D
authors.initials: JD
authors.lastname: Delhanty
authors.forename: K
authors.initials: K
authors.lastname: Tsioupra
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D003062:Codon