ABCMdb

PMID: 10798353

Dork T, Macek M Jr, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M Sr, Vavrova V, Zemkova D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Hum Genet. 2000 Mar;106(3):259-68., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCC7 p.Gly551Asp 261 Second, a combined loss of these exons was found in about half of the nasal epithelial CFTR mRNA transcripts from a German CF patient who was compound heterozygous for G551D and the presumed deletion (Fig.1a). Login to comment 57 ABCC7 p.Arg347Pro At a later stage of the study, the same pattern was observed in nasal epithelial samples from two further patients who were compound heterozygous for the deletion allele and the R347P or ∆F508 mutations, respectively. Login to comment 70 ABCC7 p.Gly551Asp RT-PCR was performed on epithelial CFTR mRNA from the nasal polyp of a patient heterozygous for G551D and CFTRdele2,3(21 kb). Login to comment 109 ABCC7 p.Arg347Pro A few compound heterozygous patients carrying mild CF mutations (e.g., I336 K, R347P, 3849+10kbC→T) in trans exhibited less severe pulmonary symptoms and were pancreatic sufficient as predicted from the well-documented dominance of milder CF alleles (Kristidis et al. 1993). Login to comment 110 ABCC7 p.Arg117His We also noted that, in addition to those patients with classic CF listed in Table 1, two German adults were carriers of the genotypes R117H/CFTRdele2,3(21 kb) and IVS8-5T/CFTRdele2,3(21 kb); these patients had initially been diagnosed by urologists as having isolated congenital bilateral absence of vas deferens (Dörk et al. 1997). Login to comment 145 ABCC7 p.Gly551Asp Subsequently, in the region of the current Czech Republic and northern Austria, the Slavs assimilated with the remaining Celtic population, as objectively documented by an increased prevalence of the "Celtic" CF mutation, G551D, in Czech and Austrian CF populations (Macek et al. 1991). Login to comment