ABCMdb

PMID: 17471160

Huang CK, Pan Q
Validation of cystic fibrosis mutation analysis using ABI 3130XL genetic analyzer.
Diagn Mol Pathol. 2007 Mar;16(1):57-9., [PubMed]

Sentences

No. Mutations Sentence Comment

58 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gln493* ABCC7 p.Val520Phe ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr Mutation controls: to specifically assess the detection of CF mutations, 20 cell line DNA samples with mutations of R553X, 3659delC/delF508, delF508/Q493X, 711+ 1G>T/621+1G>T, 621+1G>T/delF508, G85E/ 621+1G>T, R560T/delF508, A455E/621+1G>T, N1303K, W1282X, G551D/R553X, 2789+5G>A/ 2789+5G>A, 3849+10C>T/3849+10C>T, 1717-1G>A, delF508/delF508, R347P/G551D, R334W, V520F, R117H/delF508/5T/9T, or G542X/G542X, respectively, from the Coriell Cell Repositories were analyzed. Login to comment 60 ABCC7 p.Gln493* Different Instrument Conditions of ABI 3130XL Genetic Analyzer Condition A Condition B Condition C Condition D Oven_Temperature (1C) 55 55 55 55 Poly_Fill_Vol (Steps) (Polymer Filling Volume) 6500 6500 6500 6500 Current_Stability (mA) (Running Current Stability) 5 5 5 5 PreRun_Voltage (kV) (Voltage for Pre-Run) 15 15 15 15 Pre_Run_Time (s) (Time for Pre-Run) 180 180 180 180 Injection_Voltage (kV) (Sample Injection Voltage) 10 5 5 10 Injection_Time (s) (Sample Injection Time) 5 5 10 10 Voltage_Number_Of_Steps (nK) (Voltage Increase Speed) 10 10 10 10 Voltage_Step_Interval (s) (Voltage Increase Interval) 60 60 60 60 Data_Delay_Time (s) 1 1 1 1 Run_Voltage (kV) (Running Voltage) 15 15 15 15 Run_Time (s) (Running Time) 1200 1200 1200 1200 Huang and Pan Diagn Mol Pathol Volume 16, Number 1, March 2007 r 2007 Lippincott Williams & Wilkins database results except Q493X, which is not covered by this assay (Fig. Login to comment