Literature DB >> 7907315

Frequent polymorphism in exon 15 of the adenomatous polyposis coli gene.

S M Davies1, D C Snover.   

Abstract

In the course of a study of tumor suppressor gene mutation in hepatoblastoma, a frequent neutral polymorphism was identified at codon 1493 in exon 15 of the gene causing adenomatous polyposis coli (APC). As the polymorphism introduces a new BsaJ1 site, DNA amplified by the polymerase chain reaction (PCR) can be rapidly screened for this polymorphism. This polymorphism can be used in cosegregation studies for presymptomatic diagnosis of APC and family studies.

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Year:  1994        PMID： 7907315     DOI： 10.1007/bf00212032

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model.

Authors:  J Sved; A Bird
Journal:  Proc Natl Acad Sci U S A       Date:  1990-06       Impact factor: 11.205

2.  Identification and characterization of the familial adenomatous polyposis coli gene.

Authors:  J Groden; A Thliveris; W Samowitz; M Carlson; L Gelbert; H Albertsen; G Joslyn; J Stevens; L Spirio; M Robertson
Journal:  Cell       Date:  1991-08-09       Impact factor: 41.582

3.  Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.

Authors:  I Nishisho; Y Nakamura; Y Miyoshi; Y Miki; H Ando; A Horii; K Koyama; J Utsunomiya; S Baba; P Hedge
Journal:  Science       Date:  1991-08-09       Impact factor: 47.728

4.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
  4 in total
  4 in total

1.  Exploration of the APC/beta-catenin (WNT) pathway and a histologic classification system for pulmonary artery intimal sarcoma. A study of 18 cases.

Authors:  A Gaumann; B Bode-Lesniewska; D R Zimmermann; J C Fanburg-Smith; C J Kirkpatrick; F Hofstädter; M Woenckhaus; R Stoehr; E C Obermann; W Dietmaier; A Hartmann
Journal:  Virchows Arch       Date:  2008-09-20       Impact factor: 4.064

2.  Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.

Authors:  O M Sieber; H Lamlum; M D Crabtree; A J Rowan; E Barclay; L Lipton; S Hodgson; H J W Thomas; K Neale; R K S Phillips; S M Farrington; M G Dunlop; H J Mueller; M L Bisgaard; S Bulow; P Fidalgo; C Albuquerque; M I Scarano; W Bodmer; I P M Tomlinson; K Heinimann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-02-26       Impact factor: 11.205

3.  Deregulation of Wnt/β-catenin signaling through genetic or epigenetic alterations in human neuroendocrine tumors.

Authors:  Ji Tae Kim; Jing Li; Eun Ryoung Jang; Pat Gulhati; Piotr G Rychahou; Dana L Napier; Chi Wang; Heidi L Weiss; Eun Y Lee; Lowell Anthony; Courtney M Townsend; Chunming Liu; B Mark Evers
Journal:  Carcinogenesis       Date:  2013-01-25       Impact factor: 4.944

4.  Rapid detection of rare variants and common polymorphisms in the APC gene by PCR-SSCP for presymptomatic diagnosis and showing allele loss.

Authors:  S A Gayther; R Sud; D Wells; K Tsioupra; J D Delhanty
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
  4 in total

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