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Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Abstract：

:We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a ribonuclease protection analysis coupled with polymerase chain reaction amplifications of genomic DNA. Mutations were found in 53 patients (67%); 28 of the mutations were small deletions and 2 were 1- to 2-base-pair insertions; 19 were point mutations resulting in stop codons and only 4 were missense point mutations. Thus, 92% of the mutations were predicted to result in truncations of the APC protein. More than two-thirds (68%) of the mutations were clustered in the 5' half of the last exon, and nearly two-fifths of the total mutations occurred at one of five positions. This information has significant implications for understanding the role of APC mutation in inherited forms of colorectal neoplasia and for designing effective methods for genetic counseling and presymptomatic diagnosis.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Miyoshi Y,Ando H,Nagase H,Nishisho I,Horii A,Miki Y,Mori T,Utsunomiya J,Baba S,Petersen G

doi

10.1073/pnas.89.10.4452

keywords:

subject

Has Abstract,Author List Incomplete

pub_date

1992-05-15 00:00:00

pages

4452-6

issue

10

eissn

0027-8424

issn

1091-6490

journal_volume

89

pub_type

杂志文章

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