ABCMdb

PMID: 1375186

Nemeti M, Johnson JP, Papp Z, Louie E
The occurrence of various non-delta F508 CFTR gene mutations among Hungarian cystic fibrosis patients.
Hum Genet. 1992 May;89(2):245-6., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* To identify other common mutations in CF families from Hungary, 30 non-AF508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621+1G--~T), intron 10 (1717-1G---~A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. Login to comment 4 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In 6 of the 30 non-AF508 CF chromosomes the following mutations were detected: R553X, G542X, 1717-1G---~A, W1282X, and N1303K. Login to comment 9 ABCC7 p.Trp1282* ABCC7 p.Arg1162* Some mutations have a higher frequency among non-AF508 CF chromosomes in specific ethnic populations, such as the W1282X mutation in Ashkenazi Jews (77% ; Shoshani et al. 1992), or the R1162X mutation among Italians (12% ; Gasparini et al. 1991). Login to comment 16 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* As 13 different mutations have been reported within exon 11 alone (Cutting et al. 1990; Devoto et al. 1991; DOrk et al. 1991; Kerem et al. 1990; Sangiuolo et al. 1991; Strong et al. 1991), our first aim was to check the frequency of three of the more frequent mutations in this exon, namely G551D, R553X, and G542X. Login to comment 17 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys The following additional mutations were screened in different exons or introns of the CFTR gene: 621+lG--~T in intron 4, 1717-1G--~A in intron 10, W1282X in exon 20, and N1303K in exon 21. Login to comment 21 ABCC7 p.Gly551Asp ABCC7 p.Arg553* Mutations G551D and R553X were detected by the method described previously (Cutting et al. 1990). Login to comment 22 ABCC7 p.Gly542* The G542X mutation was detected using the modified primer and BstNI digestion as described by Ng et al. (1991). Login to comment 24 ABCC7 p.Asn1303Lys To analyze the N1303K mutation, primers 21i-5 (Kerem et al. 1990) and a modified internal primer, 21E-7 (5'-CTT GAT CAC TCC ACT GTT CAT AGG GAT CCT A-3') were used. Login to comment 25 ABCC7 p.Gly542* The primer modification strategy was the same as mentioned above for detection of the G542X mutation and 1717-1G--~A splice mutation (Haliassos et al. 1989). Login to comment 26 ABCC7 p.Asn1303Lys A restriction site for RmaI is created from the normal allele but not from the N1303K mutant allele. Login to comment 29 ABCC7 p.Trp1282* To detect the presence of W1282X mutation, primers flanking exon 20 (Kerem et al. 1990) were used to amplify this region. Login to comment 32 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Screening of 84 Hungarian CF chromosomes for eight CFTR gene mutations Name of mutation No. of No. of chromosomes mutant screeneda chromosomes AF508 (Exon 10) 84 54 G551D (Exon 11) 30 0 R553X (Exon 11) 30 2 G542X (Exon 11) 28 1 621+lG--*T (Intron 4) 27 0 1717-1G--~A (Intron 10) 27 1 W1282X (Exon 20) 26 1 N1303K (Exon 21) 25 1 a Chromosomes with an identified mutation were excluded for examination of other mutations Results and discussion The results of screening 84 parental CF chromosomes for these 8 mutations are summarized in Table 1. Login to comment 34 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In the 6 non-AF508 chromosomes the following mutations were found: R553X (2 chromosomes), G542X, 1717-1G---,A, W1282X, and N1303K. Login to comment 35 ABCC7 p.Arg553* The six mutant chromosomes were of the B haplotype (XV-2c: allele 1; KM-19: allele 2) (Estivill et al. 1987a, b), except in the case of one R553X mutation, where the haplotype phase was ambiguous. Login to comment 48 ABCC7 p.Arg1162* Hum Genet 85: 391-445 Gasparini P, Bonizzato A, Dognini M, Borgo G, Mastella G, Pignatti PF (1991) Frequency, distribution and clinical relationships of R1162X mutation in Italy. Login to comment 57 ABCC7 p.Trp1282* Science 239 :487-491 Sangiuolo F, Novelli G, Murru S, Dallapiccola B (1991) A serine to arginine (AGT to CTG) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis. Genomics 9 :788-789 Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem B-S (1992) Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment