ABCMdb

PMID: 7535745

Hughes D, Hill A, Redmond A, Nevin N, Graham C
Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families.
Hum Genet. 1995 Apr;95(4):462-4., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Gly551Asp ABCC7 p.Arg560Thr Other common mutations (G551D, R560T, Rll7H and 621 + I G > T) were found associated with the one respective haplotype, suggesting that they emerged in the recent past. Login to comment 21 ABCC7 p.Gly551Asp G551D, the second most common CF mutation in N. Ireland (Table 1) is always associated with 16-7-17 haplotype as in Spain (Morral et al. 1993) and the Czech and Slovak Republics (Milan Macek, personal communication). Login to comment 22 ABCC7 p.Arg560Thr R560T and RI17H (haplotypes 16-7-17 and 16-30-13, respectively) Table 1 Association of microsatellite haplotypes with 15 CFTR Mutations from N. Ireland. Login to comment 23 ABCC7 p.Gly542* Each mutation that has been found more than once is linked to a single haplotype, except AF508 and G542X. Login to comment 24 ABCC7 p.Gly551Asp ABCC7 p.Arg560Thr ABCC7 p.Arg297Gln All mutations have a distinct associated haplotype, except G551D/R560T, which are both on 16-7-17, and I507/R297Q on 17-7-17. Login to comment 25 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Arg297Gln ABCC7 p.Glu60* Nine haplotypes having specific CF mutations are not present in normal chromosomes Mutation Alleles tested (%) AF508 41 (34.2) 32 (26.7) 22 (18.3) G551D 16 R560T 08 621 + 1G > T 08 Rll7H 05 G542X 03 02 E60X 02 M507 02 R297Q 01 R553X 01 3849 G > A 01 N1303K 01 3659delC 01 557delT 01 Q2X 01 Frequency Haplotype of mutation in % 8AC 17AT 17AC 463 % in normal chromosomes 58.0 23 31 13 - 17 32 13 01 17 31 13 - 4.0 16 07 17 03 2.5 16 07 17 03 1.7 21 31 13 - 2.1 16 30 13 16 1.7 23 33 13 01 22 31 13 - 0.6 16 31 13 03 0.8 17 07 17 08 0.2 17 07 17 08 0.2 17 58 13 - 0.2 16 31 14 - 0.4 23 31 13 - 0.2 16 35 13 03 0.2 15 29 13 - 0.2 23 34 13 01 Table 2 Frequent haplotypes generated from normal and uncharacterised CF chromosomes in N. Ireland. Login to comment