ABCMdb

PMID: 11076060

Tanackovic G, Barisic I, Gjergja-Matejic R, Hecimovic S, Pavelic J
The incidence of cystic fibrosis (CF) mutations among patients from Croatia.
Clin Genet. 2000 Oct;58(4):333-5., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* After DNA isolation (2), we screened the samples for the 16 most common CFTR mutations: DF508, DI507 [heteroduplex analysis (3)] G542X, G551D, W1282X, N1303K, 3849+10kbCT, R553X, 621+1GT, R1162X, 1717-1GA, 2789+ 5GA, 3849+4AG, 1898+1GA, R117H [restriction fragment length polymorphism, (4-7)] and 3905insT [single-strand conformational polymorphism analysis (8)]. Login to comment 7 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* The presence of six different mutations was observed on 60 CF chromosomes: DF508, G542X, 1717-1GA, R117H, N1303K and R1162X (Table 1). Login to comment 9 ABCC7 p.Gly85Glu One rare mutation, G85E, in exon 3 was detected in 2 members of the same family. Login to comment 10 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu One was a patient (complex heterozygous, DF508/ G85E) and the other was a carrier (G85E/wt) (Table 1). Login to comment 14 ABCC7 p.Gly542* The second most common mutation among Croatian CF patients was G542X with a relative frequency of 5.0%. Login to comment 16 ABCC7 p.Gly542* The frequency of mutation G542X in two neighbouring countries was, however, lower: Slovenia (3.3%) (17) and Hungary (2.4%) (12, 18). Login to comment 17 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys The mutations N1303K, 1717-1GA and R117H were represented with the same frequency of 3.3%. Login to comment 18 ABCC7 p.Asn1303Lys Mutation N1303K is relatively common in Italy (4.0%) and the Czech Republic (3.1%) (14, 16), with a lower frequency in Hungary (1.2%) and the Republic of Macedonia (1.8%), while in Slovenia, it appears with a frequency of 0.5% (personal communication) (13, 15). Login to comment 20 ABCC7 p.Asn1303Lys ABCC7 p.Arg1162* ABCC7 p.Gly85Glu Results of CF mutation identification Location of the mutation in the CFTR geneMutation %CF chromosomes with mutation (n)* DF508 65.039exon 10 exon 11G542X 5.03 N1303K exon 21 2 3.3 1717-1GA intron 10 2 3.3 2exon 4R117H 3.3 G85E 1.71exon 3 R1162X exon 19 1 1.7 Total identified - 50 83.3 *Sum of CF chromosomes from 30 patients is 60 (30×2). Login to comment 21 ABCC7 p.Gly85Glu 333 Letter to the Editor Mutation G85E has not previously been found in Slovenia and Hungary, but in Italy, Spain and southern Greece, it has a frequency of between 1.33 and 0.8% (9, 13, 14, 16, 19). Login to comment