ABCMdb

PMID: 8825927

Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, De Arce M
The Irish cystic fibrosis database.
J Med Genet. 1995 Dec;32(12):972-5., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Gly551Asp ABCC7 p.Arg117His Mutation AF508 is found in 72% ofIrish CF chromosomes, G551D in 6-9%, and R117H in 2%. Login to comment 28 ABCC7 p.Gly551Asp ABCC7 p.Arg117His The genotype of three of the mothers was AF508/G551D, AF508/R117H, and AF508/ AF508 respectively. Login to comment 29 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His The genotype of three of the mothers was AF508/G551D, AF508/R117H, and AF508/ AF508 respectively. Login to comment 30 ABCC7 p.Arg117His The CF father is a 29 year old of genotype AI507/R117H. Login to comment 38 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg352Gln ABCC7 p.Arg560Thr Care Table 2 Haplotypes associated with the most common CF mutations in Ireland, as well as with Irish CF chromosomes with unidentified mutations and non-CF chromosomes Mutation NmlNcf % X/Kt Mt Microsatellite&#a7; No chrsll AF508 367/506 72-5 A 1 See table 3 2 B 2 116 C - 0 D 2 2 G551D 35/506 6-9 B 2 16-7-17 20 R117H 10/506 2-0 C 1 16-30-13 5 C 1 16-31-13 1 G542X 5/506 1-0 B 2 17-32-13 2 621 + 1G-T 4/506 0-8 B 2 21-7-17 2 B 2 21-31-13 2 R560T 4/506 0-8 D 2 16-7-17 1 D 2 16-31-17 1 1717-1G-A 3/506 0-6 C 1 16-32-13 2 A 2 17-32-13 1 N1303K 2/506 0-4 B 2 23-29-13 2 3659delC 2/506 0-4 C 1 16-35-13 2 AI507 2/506 0-4 ND ND R352Q 1/506 0-2 C 1 16-31-13 1 R553X 0/506 0 0 ND ND 1078delT 0/506 0.0 ND ND Total identified 435/506 85-6 Unidentified 71/506 14-4 A 1 See table 3 3 A 2 5 B 2 17 C 1 5 D 2 8 Normal A 1 See table 3 16 A 2 1 B 2 3 C 1 13 C 2 1 D 2 2 * Nm = number of chromosomes bearing the mutation. Login to comment 39 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg352Gln ABCC7 p.Arg560Thr Care Table 2 Haplotypes associated with the most common CF mutations in Ireland, as well as with Irish CF chromosomes with unidentified mutations and non-CF chromosomes Mutation NmlNcf % X/Kt Mt Microsatellite§ No chrsll AF508 367/506 72-5 A 1 See table 3 2 B 2 116 C - 0 D 2 2 G551D 35/506 6-9 B 2 16-7-17 20 R117H 10/506 2-0 C 1 16-30-13 5 C 1 16-31-13 1 G542X 5/506 1-0 B 2 17-32-13 2 621 + 1G-T 4/506 0-8 B 2 21-7-17 2 B 2 21-31-13 2 R560T 4/506 0-8 D 2 16-7-17 1 D 2 16-31-17 1 1717-1G-A 3/506 0-6 C 1 16-32-13 2 A 2 17-32-13 1 N1303K 2/506 0-4 B 2 23-29-13 2 3659delC 2/506 0-4 C 1 16-35-13 2 AI507 2/506 0-4 ND ND R352Q 1/506 0-2 C 1 16-31-13 1 R553X 0/506 0 0 ND ND 1078delT 0/506 0.0 ND ND Total identified 435/506 85-6 Unidentified 71/506 14-4 A 1 See table 3 3 A 2 5 B 2 17 C 1 5 D 2 8 Normal A 1 See table 3 16 A 2 1 B 2 3 C 1 13 C 2 1 D 2 2 * Nm = number of chromosomes bearing the mutation. Login to comment 64 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp Another two or three mutations are found in an additional 10% of CF chromosomes in all laboratories from the British Isles.4 Mutation 1078delT appears to be relatively frequent exclusively in Brittany,30 but was absent among 40 Irish CF non-AF508 chromosomes, and is also very infrequent in England,4 suggesting that it might not be a marker common to Celtic populations as proposed by Audrezet et al.'0 Instead, the distribution of mutation G551D appears to follow more closely the area of long term Celtic settlements,3' and in view of the identical haplotype in all G551D chromosomes, we have suggested that all cases may be identical by descent. Login to comment 65 ABCC7 p.Arg117His '0 Mutation R117H, found initially in a US patient of Anglo-Irish ancestry,32 occurs with the highest frequency in Ireland, and with much lower frequency or not at all elsewhere.4 The haplotype associations shown in table 2 could be useful for counselling in some cases, for instance in families where DNA from the affected child is unobtainable,33 or where a direct test for the less common mutations is not available. Login to comment 69 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg560Thr For instance, table 2 shows that mutations G542X, 621 + 1G-T, N1303K, 3659delC, R560T, and Ri 17H are associated with the same haplotypes, or with haplotypes probably derived from these by slippage of the DNA polymerase, as has been seen in patients from other European populations.7'0 Since those haplotypes are relatively rare in normal chromosomes (table 3), the constancy of the association has been explained as suggesting identity by descent of all chromosomes bearing the same mutations.9 Haplotype 16-7-17 is found in CF non-AF508 chromosomes more frequently than would be expected from its frequency in normal chromosomes (p<0 01, table 3), suggesting perhaps that another fairly common CF mutation may be associated with this haplotype in Ireland. Login to comment 94 ABCC7 p.Gly551Asp Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Login to comment 95 ABCC7 p.Gly551Asp Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients. Login to comment 139 ABCC7 p.Gly551Asp 31 Macek M Jr, Macek M, Serre JL, et al. Population study of CFTR gene mutations in Bohemia and Moravia: hypothesis on the historical spread of G551D and AF508 in Europe. Login to comment 142 ABCC7 p.Gly551Asp Population study of CFTR gene mutations in Bohemia and Moravia: hypothesis on the historical spread of G551D and AF508 in Europe. Login to comment