ABCMdb

PMID: 7516777

Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L
G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.
Hum Mol Genet. 1994 Mar;3(3):513-4., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Gly1244Val 3 -514 G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient Alexey Savov*, Albena Jordanova, Dlmitar Gavrilov, Dora Angelicheva and Luba Kalayd|ieva Laboratory of Molecular Pathology, University Hospital of Obstetrics, 2 Zdrave Str, 1431 Sofia, Bulgaria Received December 3, 1993; Revised and Accepted January 28, 1994 Cystic Fibrosis (CF) is the most common autosomal recessive genetic disease in Caucasian populations. Login to comment 10 ABCC7 p.Trp1282* ABCC7 p.Gly1244Glu The cycling parameters were: initial denaturation at 94°C for 5 min. followed by 30 cycles of 94°C 30 sec, 57°C 30 sec, 72°C 1 min. and a final step at 72°C for 7 min. SSCP analysis of exon 20 was performed on 14% acrylamide gels with several different mutations used as heterozygous controls (W1282X, 4005 +1 G - A , 3850 - 1 G - A , G1244E, P1290P) (Fig. 1A). Login to comment 13 ABCC7 p.Gly1244Val ABCC7 p.Gly1244Val The sequence analysis showed a G - T transversion at position 3863 of the CFTR gene (Fig. IB) which can be predicted to result in the substitution of valine for glycine at amino acid position 1244 of the CFTR protein (G1244V). Login to comment 17 ABCC7 p.Gly542* ABCC7 p.Gly1244Val The male patient who carries this mutation is of Bulgarian ethnic origin and is a compound heterozygote for G1244V and G542X. Login to comment 20 ABCC7 p.Gly1244Glu A transition (G-A) at the same nucleotide position which results in thereplacementof glycine with glutamic acid (G1244E) has been described previously in an Italian CF patient (6). Login to comment 21 ABCC7 p.Gly1244Glu ABCC7 p.Gly1244Glu The G1244E mutation was also detected in our study, in a female CF patient of Bulgarian ethnic background who is a G1244E/delF508 compound. Login to comment 24 ABCC7 p.Trp1282* ABCC7 p.Gly1244Glu ABCC7 p.Gly1244Val Lane 1, normal individual N/N; lane 2, W1282X/N; lane 3, 3850-1 G-A/N; lane 4, 4005 + 1 G-A/N; lane 5, P1290P/N; lane 10, G1244V/N; lane 11, G1244E/N; lanes 6, 7, 8, 9, 12 investigated patients without mutations in exon 20. Login to comment 27 ABCC7 p.Gly1244Val (C) Identification of G1244V on 12% acrylamkte gel electrophoresis on PhastSystem (Pharmacia) after Mboll digestion of exon 20 amplified product. Login to comment 28 ABCC7 p.Gly1244Val Lane 1, mother carrying G1244V; lane 2, father; lane 3, affected child; lane 4, size marker X/HindDJ + <*>174/HaeIII. Login to comment