ABCMdb

PMID: 8981951

Rave-Harel N, Kerem E, Nissim-Rafinia M, Madjar I, Goshen R, Augarten A, Rahat A, Hurwitz A, Darvasi A, Kerem B
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
Am J Hum Genet. 1997 Jan;60(1):87-94., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC7 p.Gly85Glu Two of the individuals were homozygous for the ST allele, and 9 were heterozygotes, in 8 of whom an additional CFTR mutation on the other chromosome was identified: 3 carried the G85E mutation (Zielenski et al. Login to comment 37 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys 1991a), 3 carried the AF508 mutation (Kerem et al. 1989a), 1 carried the N1303K mutation (Osborne et al. 1991), and 1 carried the W1282X mutation (Vidaud et al. 1990) (table 1). Login to comment 38 ABCC7 p.Gly85Glu Three individuals (1474, 658, and 607) either homozygous for the ST allele or compound heterozygous for the ST allele and the G85E mutation were from the same family carrying the same ST allele, as evidenced by their pedigree and by an extended haplotype analysis of the CFTR locus (Kerem et al., in press). Login to comment 51 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu Biopsies from epithelial epididymis were obtained Table 1 Levels of Normally Spliced RNA Transcribed from the 5T Allele in Nasal and Epididymal Epithelium, and Clinical and Genetic Features NASAL EPITHELIUM EPIDIDYMAL EPITHELIUM (% Normal RNA) (% Normal RNA) PATIENT SEx/AGE DIAGNOSIS GENOTYPE FEV, From ST From Total From 5T From Total 607b M/41 CBAVD ST/ST 88 37 37 24 24 1549 F/19 Healthy ST/ST 83 31 31 ... ... 658b M/36 CBAVD ST/G85E 78 28 14 ... ... 1703 F/33 Healthy ST/G85E 92 62 31 1474b M/17 CF ST/G85E 40 16 8 660 M/29 CBAVD ST/AFS08 91 72 36 20 10 666 M/31 CBAVD ST/AFS08 83 52 26 32 16 662 M/33 CBAVD ST/AFS08 71 24 12 628 M/35 CBAVD ST/N1303K 57 12 6 12 6 642 M/39 CBAVD ST/W1282X 72 12 6 ... ... 610 M/36 CBAVD ST/(unknown mutation) 86 S0 25 ... ... aValues are means of repeated experiments (n = 2-6); variability between experiments was <10% of the mean. Login to comment 72 ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu RT-PCR 2 products hybridized to the exon 3 oligonucleotide G85E-N 5' GTTCTATGGAATCTTT 3', which identified the normal sequence, washed at 420C, and to G85E-M 5' GTTCTATGAAATCTTT 3', which identified the G85E mutation, washed at 40'C. The RT-PCR 3 products were hybridized in the same way as was RT-PCR 1. Login to comment 80 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu In cases in which family members were not available the assignment was performed by the complete correlation between the 9T allele and the AF508 and N1303K mutations and between the 7T allele and the W1282X and G85E mutations. Login to comment 93 ABCC7 p.Gly85Glu The reaction was performed on a patient heterozygous for the ST allele and the G85E mutation. Login to comment 94 ABCC7 p.Gly85Glu The vertical line represents the G85E site. Login to comment 107 ABCC7 p.Gly85Glu The example is from patient 1474, heterozygous for the ST allele, the G85E mutation, and the M470V polymorphism. Login to comment