Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.
Genomics
; 15(3): 688-91, 1993 Mar.
Article
em En
| MEDLINE
| ID: mdl-7682196
ABSTRACT
Single cases of the four novel splice site mutations 1525-1 G-->A (intron 9), 3601-2 A-->G (intron 18), 3850-3 T-->G (intron 19), and 4374 + 1 G-->T (intron 23) were detected in the CFTR gene of cystic fibrosis patients of Indo-Iranian, Turkish, Polish, and German descent. The nucleotide substitutions at the +1, -1, and -2 positions all destroy splice sites and lead to severe disease alleles associated with features typical of gastrointestinal and pulmonary cystic fibrosis disease. The 3850-3 T-to-G change was discovered in a very mildly affected 33-year-old delta F508 compound heterozygote, suggesting that the T-to-G transversion at the less conserved -3 position of the acceptor splice site may retain some wildtype function.
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Bases de dados:
MEDLINE
Assunto principal:
Splicing de RNA
/
Fibrose Cística
/
Proteínas de Membrana
/
Mutação
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Alemanha