ABCMdb

PMID: 7520799

Romey MC, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M
Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.
Hum Mol Genet. 1994 Apr;3(4):661-2., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Ile175Val Direct asymmetric sequencing of exon 5 using dideoxynucleotide chain termination method revealed an A to G transition at nucleotide 655 (Fig. lb), that replaces isoleucine by valine at codon 175 (1175V). Login to comment 17 ABCC7 p.Ile175Val Detection and identification of the substitution I175V. Login to comment 18 ABCC7 p.Ile175Val a. DGGE analysis of exon 5 of CFTR, showing the familial segregation of mutation I175V: the parents (lanes 2 and 3) are heterozygous (presence of heteroduplexes formed between complementary strands of the two alleles); the two affected daughters (lanes 4 and 5) arc homozygous for the mutated allele, which is situated at a lower position in the denaturing gel than the normal allele (lane 1, control DNA). Login to comment