Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
The I1307K APC polymorphism: Prevalence in non-Ashkenazi Jews and evidencefor a founder effect
Autore:
Shtoyerman-Chen, R; Friedman, E; Figer, A; Carmel, M; Patael, Y; Rath, P; Fidder, HH; Bar-Meir, S; Theodor, L;
Indirizzi:
Chaim Sheba Med Ctr, Dept Gastroenterol, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr Tel Hashomer Israel IL-52621 21 Tel Hashomer, Israel
Titolo Testata:
GENETIC TESTING
fascicolo: 2, volume: 5, anno: 2001,
pagine: 141 - 146
SICI:
1090-6576(200122)5:2<141:TIAPPI>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
COLORECTAL-CANCER; 11307K ALLELE; GENE; MUTATIONS; ORIGIN; RISK;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Shtoyerman-Chen, R Chaim Sheba Med Ctr, Dept Gastroenterol, IL-52621 Tel Hashomer, Israel Chaim Sheba Med Ctr Tel Hashomer Israel IL-52621 rael
Citazione:
R. Shtoyerman-Chen et al., "The I1307K APC polymorphism: Prevalence in non-Ashkenazi Jews and evidencefor a founder effect", GENET TEST, 5(2), 2001, pp. 141-146

Abstract

A missense mutation within the APC gene, I1307K, was described in Ashkenazi individuals at risk for colorectal cancer (CRC) and in the general population. The anecdotal reporting of the occurrence of this mutation in some non-Ashkenazi individuals led us to hypothesize that within the Jewish people, the I1307K polymorphism may reflect a founder mutation, and that the mutation is not restricted to ethnic Ashkenazis. To test that notion, and to establish the occurrence rate of the I1307K polymorphism in non-Ashkenazi Jewish populations, we screened Iraqi and Moroccan Jews and consecutive JewishCRC patients and performed haplotype analysis with APC-linked markers in two I1307K carrier families. We analyzed Jewish individuals: 210 Moroccans, 160 Iraqis, 148 Ashkenazi, and 349 CRC patients (227 Ashkenazi and 122 non-Ashkenazi). The mutation detection scheme included PCR followed by denaturing gradient gel electrophoresis (DGGE) or modified restriction analysis (MRA). Haplotypes were assessed using three intragenic and three flanking markers. The I1307K polymorphism was detected in 29/227 Ashkenazi (12.8%), 2/122 (1.6%) non-Ashkenazi CRC patients, and in 2 individuals each (similar to1%) within the Moroccan and Iraqi populations. Allelic pattern analysis in all our I1307K carriers, revealed a common haplotype for the three intragenic markers tested, in all mutation carriers, regardless of ethnic origin. The I1307K polymorphism, therefore, exists in all ethnic Jewish populations: Ashkenazi and non-Ashkenazi, with or without colon cancer. Jewish I1307K mutation carriers share a common allelic pattern with APC-linked markers. This strongly supports the notion of a founder mutation for I1307K.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 22:08:27