ABCMdb

PMID: 7681034

Ivaschenko TE, Baranov VS, Dean M
Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia.
Hum Genet. 1993 Mar;91(1):63-5., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Ser1196* ABCC7 p.Trp1282Arg Two new alterations - S1196X (exon 19) and W1282R (exon 20) - and two novel polymorphisms - 1525-61 (intron 9) and 1716+12 T-C (intron 10) - were identified. Login to comment 3 ABCC7 p.Ser1196* Mutation S1196X changes a TCA codon to TGA and destroys an EcoRI site. Login to comment 4 ABCC7 p.Trp1282Arg Alteration W1282R results from a T-to-C change at position 3976. Login to comment 14 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The AF508 mutation accounts for 30% - 80% of all CF chromosomes, and several others (G551D, R553X, G542X, N1303K, and W1282X) consitute as high as 5% of the CF chromosomes in some populations (Cutting et al. 1990; Kerem et al. 1990; Os- Correspondenceto: M. Dean borne et al. 1991; Vidaud et al. 1990). Login to comment 18 ABCC7 p.Glu504Gln Actually only three new CF mutations have been detected in this country so far - 3821delT (White et al. 1991), 1677delTA (Ivaschenko et al. 1991), and E504Q (Baranov et al. 1991b). Login to comment 19 ABCC7 p.Glu504Gln Two of them (1677delTA and E504Q) were found by chance as a by-product of exon 10 analysis for AF508 mutation in CF high-risk families requesting prenatal diagnosis. Login to comment 48 ABCC7 p.Trp1282* The second alteration was confined to 3 DNA samples ( 1.9% of CF chromosomes) and was identified as mutation W1282X (Vidaud et al. 1990). Login to comment 57 ABCC7 p.Arg553* Exon 11 Three DNA samples contained the known major mutation R553X (Cutting et al. 1990). Login to comment 64 ABCC7 p.Arg553* ABCC7 p.Ser1196* Exon 10 ;7(%) Exon 11 n (%) Exon 19 n (%) Exon 20 ;7(%) Mutations R553X 3 (1.9%) S1196X 1(0.6%) WI282X 3 (I .9%) 3732delA 7 (4.4%) WI282R 1 (0.6%) Polymorphisms 1540G (Val) (40%) A4002G 10 (6.3%) 1540A (Met) 96 (60%) 1716+12 1 (0.6%) %C 1648(AorG) 1 (0.6%) (Ile-Val) 1525 61 7 (4.4%) polymorphism creates a MaeII site, leading to 370- and 120-bp fragments. Login to comment