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Titolo:
G542X MUTATION IN MEXICAN CYSTIC-FIBROSIS PATIENTS
Autore:
VILLARREAL MT; CHAVEZ M; LEZANA JL; CUEVAS F; CARNEVALE A; CODOVA E; DELANGEL RM; OROZCO L;
Indirizzi:
INST NACL PEDIAT,DEPT INVEST & GENET HUMANA,MOLEC BIOL LAB,INSURGENTES SUR 3700-C MEXICO CITY 04530 DF MEXICO ASOCIAC MEXICANA FIBROSIS QUIST,INST NACL PEDIAT,DEPT GENET,MOLEC BIOL LAB MEXICO CITY DF MEXICO ASOCIAC MEXICANA FIBROSIS QUIST,INST NACL PEDIAT,DEPT NEUMOL MEXICO CITY DF MEXICO IPN,CINVESTAV,DEPT EXPTL PATHOL MEXICO CITY DF MEXICO
Titolo Testata:
Clinical genetics
fascicolo: 1, volume: 49, anno: 1996,
pagine: 54 - 56
SICI:
0009-9163(1996)49:1<54:GMIMCP>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIVER-DISEASE; GENE; IDENTIFICATION; DELTA-F508; FREQUENCY;
Keywords:
CYSTIC FIBROSIS; G542X MUTATION; HEPATOBILIARY COMPLICATIONS; PCR-MEDIATED SITE-DIRECTED MUTAGENESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
M.T. Villarreal et al., "G542X MUTATION IN MEXICAN CYSTIC-FIBROSIS PATIENTS", Clinical genetics, 49(1), 1996, pp. 54-56

Abstract

We analyzed the frequency of the G542X mutation in a sample of 76 Mexican cystic fibrosis patients and the genotype-phenotype correlation. The mutation was screened using PCR-mediated site-directed mutagenesis, and was present on 7.2% of the CF chromosomes, This frequency is significantly higher than the worldwide frequency according to the CysticFibrosis Genetic Analysis Consortium (3.4%, p<0.01), and similar to that reported in Spain (8%), which is in accordance with the ethnic origin of the Mexican population. All patients carrying G542X on at leastone allele had mild to moderate pulmonary disease. In patients with hepatobiliary involvement, the frequency of G542X chromosomes was higher than the frequency of the mutation in all the Mexican CF chromosomes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 10:18:03