ABCMdb

PMID: 7518409

Bienvenu T, Hubert D, Fonknechten N, Dusser D, Kaplan JC, Beldjord C
Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
Hum Genet. 1994 Jul;94(1):65-8., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Trp361Arg Using this method for exon 3 and 7, we have identified a novel splice mutation at the 3" end of intron 2 (297- 3C---~T) and a novel missense mutation in exon 7 (W361R) (T--~C at 1213). Login to comment 43 ABCC7 p.Trp361Arg Direct sequencing of these PCR products showed two novel mutations, a missense mutation in exon 7 named W361R (T--~C at 1213)(Fig. 2b) and a potential splicing mutation 297-3C-~T in intron 2 (Fig. 1 B). Login to comment 52 ABCC7 p.Trp361Arg ABCC7 p.Trp361Arg ABCC7 p.Trp361Arg N M A 20% -i- l70% A Fig.2 A Detection of the mutation W361R by DGGE. Lane M, W361R; lane N, normal sample. B DNA sequence analysis of the mutation W361R. Login to comment 55 ABCC7 p.Trp361Arg B Direct sequence analysis of the RT-amplification product demonstrating the junction of exons 2 and 4 C G T B 3' A A T A A C O A G G T T - - C r FC , gC G T A 1 G G T A C A A A 67 Discussion The investigation of the CFTR gene by DGGE and DNA sequencing of this mildly affected CF patient has led to the identification of two novel mutations, a missense mutation W361R in exon 7 and a potential splicing mutation in intron 2 of the CFTR gene (297-3C--~T). Login to comment 57 ABCC7 p.Trp361Arg The mutation W361R can easily be detected by restriction enzyme diM 1 2 3 A A C G T B S C I A T C T G A A A A A T T G O A A A O G A A G T C A C C A A A O C A G T A C A G O4 cO X LLJ C 0 x w gestion as it destroys an NlaIII site (data not shown). Login to comment