ABCMdb

PMID: 9067754

Macek M Jr, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Hum Mutat. 1997;9(2):136-47., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Leu568* ABCC7 p.Lys166Glu Three novel Asian mutations were detected-K166E, L568X, and 3121-2 AÃG (in homozygosity)-accounting for all CF alleles. Login to comment 31 ABCC7 p.Lys166Glu DNA samples from 100 healthy random South Korean individuals were used in population screening for the K166E mutation identified in this study. Login to comment 36 ABCC7 p.Arg117His PCR Amplification and DGGE Analysis Initial screening of Asian CF patients for the 16 most common caucasian CFTR mutations (R117H, TABLE 1. Login to comment 42 ABCC7 p.Gly551Asp ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr 621 + 1 GÃT, R334W, R347P, A455E, aI507, aF508, 1717-1 GÃA, G542X, S549N, G551D, R553X, R560T, 3849 + 10kb CÃT, W1282X, and N1303K) was performed using the rapid multiplex reverse dot hybridization system, under conditions provided by Roche Molecular Systems (Alameda, CA) (Kawasaki et al., 1993; Welsh et al., 1995). Login to comment 58 ABCC7 p.Lys166Glu ABCC7 p.Lys166Glu Population screening for the K166E mutation by ASO hybridization was performed using published conditions, with PCR primers 5i5´ and 5i3´ and mutant probe K166E-MUT; 5´-CTT GAC AGC TCT AAA GTC T-3´, with a final wash at 51°C (Zielenski et al., 1991; Cutting et al., 1992). Login to comment 105 ABCC7 p.Lys710* Lane 1, K710X mutation; lanes 2,3,5,7,8, wild-type samples. Login to comment 115 ABCC7 p.Leu568* ABCC7 p.Lys166Glu Three novel mutations K166E, L568X, and 3121-2 AÃG (in homozygosity) were discovered accounting for all unknown CF alleles (Table 2). Login to comment 118 ABCC7 p.Leu568* Moreover, the base substitution responsible for the novel L568X mutation (TÃA) belongs to the category of "conservative transversions." Login to comment 119 ABCC7 p.Lys166Glu The K166E mutation in the Korean-American 17-year-old girl occurs on the CF chromosome inherited from her Asian mother. Login to comment 123 ABCC7 p.Lys166Glu The K166E mutations may be classified as "mild," with regard to pancreatic function, since this almost adult CF patient remains pancreatic sufficient. Login to comment 128 ABCC7 p.Leu568* Finally, the L568X nonsense mutation was identified in the 2-year-old Vietnamese CF patient. Login to comment 137 ABCC7 p.Leu568* ABCC7 p.Lys166Glu Novel CFTR Mutations Identified in Asian CF Patientsa Mutation Nucloetide change Exon/intron Consequence CFTR domain K166E AÃG at 628 E5 Lys Ã Glu at 166 L568X TÃA at 1835 E12 Leu Ã stop NBD I 31212 AÃG AÃG at 31212 I16 Splice mutation TM 9 The position of a nucleotide change together with its location in the CFTR gene (E, exon; I, intron) and the amino acid designation are according to Zielenski et al. (1991). Login to comment 155 ABCC7 p.Leu88* Preliminary mutation analyses of the CFTR gene in Asian CF patients resulted in the identification of mutations L88X, 1898+1 GÃT, and 1898+5 GÃT (Macek et al., 1992; Crawford et al., 1995; Zielenski et al., 1995). Login to comment