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Titolo:
IDENTIFICATION OF THE I507 DELETION BY SITE-DIRECTED MUTAGENESIS
Autore:
OROZCO L; FRIEDMAN K; CHAVEZ M; LEZANA JL; VILLARREAL MT; CARNEVALE A;
Indirizzi:
INST NACL PEDIAT,DEPT INVEST GENET HUMANA,MOLEC BIOL LAB,INSURGENTES SUR 3700-C MEXICO CITY 04530 DF MEXICO UNIV N CAROLINA,N CAROLINA MEM HOSP,DEPT LAB MED,DIV MOLEC PATHOL CHAPEL HILL NC 00000 ASOCIAC MEXICANA FIBROSIS QUIST MEXICO CITY DF MEXICO
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 51, anno: 1994,
pagine: 137 - 139
SICI:
0148-7299(1994)51:2<137:IOTIDB>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTIC-FIBROSIS MUTATIONS; COMMON; GENE;
Keywords:
CYSTIC FIBROSIS; DELTA-I507 MUTATION; DELTA-F508 MUTATION; PSM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
11
Recensione:
Indirizzi per estratti:
Citazione:
L. Orozco et al., "IDENTIFICATION OF THE I507 DELETION BY SITE-DIRECTED MUTAGENESIS", American journal of medical genetics, 51(2), 1994, pp. 137-139

Abstract

We describe a compound heterozygous Delta-F508/Delta-I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)-mediated site-directed mutagenesis showed the 219 bp fragment observed in Delta-F508 homozygotes. The father showed a Delta-F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a Delta-F508/Delta-I507 compound heterozygote, because the Delta-I507 allele fails to amplify when analyzed with Delta-F508 primers due to a double mismatch between the primers and template; b) uniparental isodisomy; c) nonmaternity; and d) sample processing mix-up. We then tested for the Delta-I507 mutation using specific primers with a single base mismatch, and we found that the patient was in fact a compound heterozygote who inherited the Delta-F508 mutation from the father and the Delta-I507 from the mother. We underscore the need to detect this rare deletion in patients showing a Delta-F508 homozygous pattern when one parent, particularly the father, is a noncarrier. (C) 1994 Wiley-Liss,Inc.

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Documento generato il 03/04/20 alle ore 19:44:37