ABCMdb

PMID: 16020494

Millson A, Pont-Kingdon G, Page S, Lyon E
Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes.
Clin Chem. 2005 Sep;51(9):1619-23. Epub 2005 Jul 14., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Arg117His When the 5T allele is found in conjunction with the mutation R117H, it has the potential to compound the already affected CFTR transcript. Login to comment 18 ABCC7 p.Arg117His If the R117H mutation and the 5T allele are found on the same chromosome (in cis), the result is a phenotypically more severe CF chromosome (6). Login to comment 51 ABCC7 p.Arg117His ABCC7 p.Arg117His We used allele-specific amplification targeting the R117H locus combined with long-range PCR (12) to amplify two 17.7-kb amplicons from an R117H/⌬F508 compound heterozygote. Login to comment 73 ABCC7 p.Arg117His One ⌬F508/R117H compound heterozygous sample with 9T/5T repeats was haplotyped with long-range allele-specific PCR (12) and the TG-T haplotyping probes. Login to comment 74 ABCC7 p.Arg117His Haplotype analysis showed ⌬F508-TG10-9T on one chromosome and R117H-TG12-5T on the other (Fig. 3). Login to comment 88 ABCC7 p.Arg117His R117H/polyT/poly(TG) haplotyping. Login to comment 90 ABCC7 p.Arg117His Two were allele-specific, for either the wild type or mutant R117H, and the third amplified both alleles. Login to comment 91 ABCC7 p.Arg117His ABCC7 p.Arg117His Addition of the TG-T haplotyping probes shows the mutant R117H allele, carrying the TG12-5T, and the wild-type R117H allele, containing the ⌬F508 mutation, in cis with the TG10-9T. Login to comment 105 ABCC7 p.Arg117His The haplotyping result for the R117H/⌬F508 compound heterozygote was surprising in view of the current theory regarding the effect of the TG influence on CFTR transcripts. Login to comment 107 ABCC7 p.Arg117His Although the genotype/phenotype correlation is not well established, the chromosome containing R117H-TG12-5T can lead to classic CF because of the combined effects of the 3 variants. Login to comment 110 ABCC7 p.Arg117His Other CFTR polymorphisms, such as M470V, have been shown to exert influence on the production of the CFTR protein and might help explain the penetrance of the R117H- TG12-5T chromosome (7). Login to comment