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Titolo:
7 NEW MUTATIONS IN HMSH2, AN HNPCC GENE, IDENTIFIED BY DENATURING GRADIENT-GEL ELECTROPHORESIS
Autore:
WIJNEN J; VASEN H; KHAN PM; MENKO FH; VANDERKLIFT H; VANLEEUWEN C; VANDENBROEK M; VANLEEUWENCORNELISSE I; NAGENGAST F; MEIJERSHEIJBOER A; LINDHOUT D; GRIFFIOEN G; CATS A; KLEIBEUKER J; VARESCO L; BERTARIO L; BISGAARD ML; MOHR J; FODDE R;
Indirizzi:
LEIDEN UNIV,SYLVIUS LAB,CTR MED GENET,DEPT HUMAN GENET,WASSENAARSEWEG72,BOX 9503 2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,SYLVIUS LAB,CTR MED GENET,DEPT HUMAN GENET 2300 RA LEIDENNETHERLANDS LEIDEN UNIV,MED CTR,FDN DETECT HEREDITARY TUMORS LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,DEPT GASTROENTEROL LEIDEN NETHERLANDS FREE UNIV AMSTERDAM HOSP,DEPT CLIN GENET AMSTERDAM NETHERLANDS UNIV NIJMEGEN HOSP,DEPT GASTROENTEROL NIJMEGEN NETHERLANDS ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET ROTTERDAM NETHERLANDS UNIV GRONINGEN HOSP,DEPT GASTROENTEROL GRONINGEN NETHERLANDS IST NAZL RIC CANC,IMMUNOGENET LAB GENOA ITALY UNIV MILAN,REGISTRO ITALIANO POLIPOSI FAMILIARI MILAN ITALY UNIV COPENHAGEN,PANUM INST,INST MED BIOCHEM & GENET COPENHAGEN DENMARK
Titolo Testata:
American journal of human genetics
fascicolo: 5, volume: 56, anno: 1995,
pagine: 1060 - 1066
SICI:
0002-9297(1995)56:5<1060:7NMIHA>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONPOLYPOSIS COLORECTAL-CANCER; POLYMERASE CHAIN-REACTION; SINGLE-BASE CHANGES; COLON-CANCER; HEREDITARY; INSTABILITY; POLYPOSIS; HOMOLOG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
J. Wijnen et al., "7 NEW MUTATIONS IN HMSH2, AN HNPCC GENE, IDENTIFIED BY DENATURING GRADIENT-GEL ELECTROPHORESIS", American journal of human genetics, 56(5), 1995, pp. 1060-1066

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is a relatively common autosomal dominant cancer-susceptibility condition. The recent isolation of the DNA mismatch repair genes (hMSH2, hMLH1, hPMS1, and hPMS2) responsible for HNPCC has allowed the search for germ-line mutations in affected individuals. In this study we used denaturing gradient-gel electrophoresis to screen for mutations in the hMSH2 gene. Analysisof all the 16 exons of hMSH2, in 34 unrelated HNPCC kindreds, has revealed seven novel pathogenic germ-line mutations resulting in stop codons either directly or through frameshifts. Additionally, nucleotide substitutions giving rise to one missense, two silent, and one useful polymorphism have been identified. The proportion of families in which hMSH2 mutations were found is 21%. Although the spectrum of mutations spread at the hMSH2 gene among HNPCC patients appears extremely heterogeneous, we were not able to establish any correlation between the site of the individual mutations and the corresponding tumor spectrum. Our results indicate that, given the genomic size and organization of the hMSH2 gene and the heterogeneity of its mutation spectrum, a rapid and efficient mutation detection procedure is necessary for routine molecular diagnosis and presymptomatic detection of the disease in a clinical setup.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/12/20 alle ore 05:28:35