ABCMdb

PMID: 8659542

Miller PW, Hamosh A, Macek M Jr, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.
Am J Hum Genet. 1996 Jul;59(1):45-51., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Arg117His ABCC7 p.Arg347His One patient carried two CF mutations (AF508/R347H), and five were found to carry one CF mutation (four AF508; one R117H). Login to comment 62 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Mutation Analysis Genomic DNA samples from both patient groups were screened for six of the most common CF mutations-AF508, G542X, GS51D, R553X, W1282X, and N1303K-by using reverse allele-specific oligonucleotide (ASO) analysis (Erlich et al. 1991). Login to comment 63 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly551Ser ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asp1152His DNA samples from ABPA patients were screened for nine additional mutations associated with pancreatic sufficient and atypical CF: R117H (ASO), R347P (NcoI digest) and R347H (HhaI digest), R334W (MspI digest), A455E (ASO and BamHI digest), G551S (ASO) (Strong et al. 1991), 2789+5G-*A (ASO), D1152H (ASO) (Tsui 1992), and 3849+10kbC-*T (ASO and HphI digest) (Highsmith et al. 1994). Login to comment 85 ABCC7 p.Gly542* One patient with normal sweat electrolytes and pseudomonas colonization had the G542X mutation on one allele. Login to comment 95 ABCC7 p.Arg347His The ABPA patient with a mildly elevated serum IRT (1) was found to be a compound heterozygote for CF mutations, AF508 and R347H. Login to comment 103 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347His ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln Her baseline NPD was -45 mV, which de- 59:45-S1, 1996 Table 2 Demographics and Genotype of ABPA Patients CFTR I.D. Race CF Mutations Polymorphismsa 1 Caucasianb AFS08/R347H 2 Caucasianb -/- M470V, 129G/C 3 Caucasianb AFS08/- ... 4 African-American -/- 5 Caucasian -5-ST, M470V 6 Caucasian &FS08/- R75Q, M470V 7 Caucasian -/- M470V 8 Caucasian R117H-7T/- R75Q 9 Caucasian AFS08/- M470V 10 Caucasian AFS08/- M470V 11 Caucasian -/- ST a The 5 thymidine variant (ST) does not cause CF (Chu et al. 1992) but has been associated with the CBAVD phenotype (Chill6n et al. 1995). Login to comment 107 ABCC7 p.Arg117His The R117H mutation in patient 8 was identified by DGGE and confirmed by ASO and sequencing. Login to comment 113 ABCC7 p.Arg75Gln Amino acid changes R75Q (exon 3) (Zielenski et al. 1991) and M470V (exon 10) (Kerem et al. 1990) were identified in two patients (6 and 8) and six patients (2, 5-7, 9, and 10), respectively. Login to comment 133 ABCC7 p.Arg117His Furthermore, one patient was found to carry R117H-7T on one allele, a mutation associated with pancreatic sufficient CF and CBAVD (Kiesewetter et al. 1993). Login to comment 135 ABCC7 p.Arg117His However, the frequency of R117H-7T in the general 49 population is believed to be low (1/160) (Kiesewetter et al. 1993). Login to comment