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Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families
Author(s) -
Isidro G.,
Matos S.,
Gonçalves V.,
Cavaleiro C.,
Antunes O.,
Marinho C.,
Soares J.,
Boavida M.G.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9192
Subject(s) - biology , genetics , msh2 , mlh1 , single strand conformation polymorphism , portuguese , gene , mutation , dna mismatch repair , dna repair , linguistics , philosophy
Mismatch repair genes MSH2 and MLH1 are the two major genes implicated in hereditary nonpolyposis colorectal cancer. For the past years, we have successfully searched for mutations in both genes in affected Portuguese families, by SSCP and DNA sequencing analysis but because of the advantages that DHPLC offers, we have established conditions in our laboratory to use this new method. While screening for mutations by both methods, in 35 individuals belonging to HNPCC Portuguese families, 4 novel MLH1 mutations (c.307‐1G>C; c.1023delG [p.R341fsX366]; c.2154_2155delCA [p.H718fsX721], c.2154_2155dupCA [p.I719fsX782]), an unclassified variant (c.‐28A>T) and one silent MSH2 polymorphism (c.2766T>C) have been identified. © 2003 Wiley‐Liss, Inc.