ABCMdb

PMID: 16784904

Ciminelli BM, Bonizzato A, Bombieri C, Pompei F, Gabaldo M, Ciccacci C, Begnini A, Holubova A, Zorzi P, Piskackova T, Macek M Jr, Castellani C, Modiano G, Pignatti PF
Highly preferential association of NonF508del CF mutations with the M470 allele.
J Cyst Fibros. 2007 Jan;6(1):15-22. Epub 2006 Jun 19., [PubMed]

Sentences

No. Mutations Sentence Comment

54 ABCC7 p.Arg1070Gln (5) In one case this mutation has been found in cis with the R1070Q variant. Login to comment 62 ABCC7 p.Gly542* ABCC7 p.Gly542* In particular, 12 Italian and the 3 Czech CF patients carried the F508del (that has been unambiguously assigned to the M allele 118/118 and 57/57 times in the present two samples, respectively, in agreement with previous reports); 1 carried the 2183AAYG (21/21); 1 carried the I507del (7/7), 1 carried the 1717- 1GYA (20/20) and 1 carried the G542X (19/19). Login to comment 88 ABCC7 p.Gly551Asp ABCC7 p.Arg1162* ABCC7 p.Arg1162* In particular, out of 12 NonF CF mutations studied in all the 272 Italian and 86 Czech NonF CF alleles, 3 showed very different frequencies: G551D (qItaly =0.004, qCzech =0.139; P <10À 6 ); 2183 AA>G ( qItaly =0.081, qCzech =0.012; P å0.03); R1162X (qItaly =0.129, qCzech = 0.00; P å5Â10À 4 ). Login to comment 91 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu Among NonF CF mutations, G85E, R553X and N1303K were found both with the M and the Vallele within the Italian sample; 1898+1 G>A and 3849+10 Kb C>T were found both with the M and the V allele within the Czech Republic; and G551D was found in Italy with the V allele (1/1) and in the Czech Republic with the M allele (12/12). Login to comment 121 ABCC7 p.Gly551Asp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser466* Table 5 shows the estimated residual Table 4 CF mutations found in the 53 CF patients of the Bolzano province CF mutation Absolute and relative (%) frequencies Associated with(1) F508del 56 (52.8) M 711+5 G>A 10 (9.4) M R347P 3 (2.8) V S466X 1 (0.9) M 1717-1 G>A 1 (0.9) M G542X 1 (0.9) M G551D 2 (1.9) V 1874insT 1 (0.9) V 2183AA>G 3 (2.8) M 2789+5G>A 1 (0.9) M R1162X 24 (22.6) M N1303K 2 (1.8) M (1) Based on data of Table 1. Login to comment