PMID: 16990428

Schneider M, Joncourt F, Sanz J, von Kanel T, Gallati S
Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler.
Clin Chem. 2006 Nov;52(11):2005-12. Epub 2006 Sep 21., [PubMed]
Sentences
No. Mutations Sentence Comment
34 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16990428:34:116
status: NEW
view ABCC7 p.Trp1282* details
 We used DNA samples from 3 healthy control individuals and from 2 CF patients with only 1 known variation, 1 with a W1282X and 1 with a 5T sequence variant in intron 8. Login to comment 40 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 16990428:40:402
status: NEW
view ABCC7 p.Trp1282* details
 Origin of sample Sample details/characterization of deletion Division of Human Geneticsa CF normal control individuals (calibrator) ● 2 healthy individuals in whom no CFTR pathogen sequence variant could be detected by our single-strand conformation polymorphism/heteroduplex screening method Normal control individuals ● 3 healthy control individuals ● 2 CF patients with only 1 (W1282X/5T) detected pathogen sequence variant but multiple homozygous sequence variants Individuals with known large deletions ● CFTRindel2 ● CFTRdele2-3 (21 kb)b ● 3 CF patients with CFTRdele14b-17b (c.2752-674_3499 ϩ 198del9858)b ● 3 CF patients with CFTRdele17a-17b (c.3121-977_3499 ϩ 248del2515)b Blinded analysis ● 61 patients with classic or atypical CF symptoms with only 1 detected pathogen sequence variant in the CFTR gene Positive controls (from individuals with known large deletions) Audrezet et al. (Brest, France) (2) ● CFTRindel4 (c.274-5938_489 ϩ 2011del8165ins41) ● CFTRindel4-6a (c.273 ϩ 7983_743 ϩ 362del18654insACCTCG) ● CFTRindel11-16 (c.1584 ϩ 10TϾC; c.1584 ϩ 12_2988 ϩ 403del47.5 kbins35 bp; homozygous) ● CFTRdele22-23 (c.3864-78_4242 ϩ 577del1532) Chevalier-Porst et al. (Lyon, France) (1) ● CFTRdele2-10 (c.53 ϩ 4533_1585-7322del95738) ● CFTRdele4-10 (c.274-10538_1393 ϩ 277del39572) ● CFTRindel16-17b (c.2909-636_3368-1611del6965ins32) ● CFTRdele17a-18 (3120 ϩ 1 kbdel8.6 kb)c ● CFTRindel22-24 (c.3964-3890-4413 ϩ 3143del9454ins5) a Division of Human Genetics, Children`s University Hospital, Inselspital, Bern, Switzerland. Login to comment