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Clinical Chemistry 48: 1121-1123, 2002;
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(Clinical Chemistry. 2002;48:1121-1123.)
© 2002 American Association for Clinical Chemistry, Inc.

Technical Briefs

Development and Evaluation of a PCR-based, Line Probe Assay for the Detection of 58 Alleles in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

XinJing Wang1, Angela Myers2, Randall K. Saiki2,1 and Garry R. Cutting1a

1 Johns Hopkins University School of Medicine, Baltimore, MD 21287;
2 Roche Molecular Systems, Alameda, CA 94501

aaddress correspondence to this author at: Johns Hopkins University School of Medicine, CMSC 9-120, Baltimore, MD 21287; fax 410-955-0484, e-mail gcutting@jhmi.edu

The first 20% of the full text of this article appears below.

Cystic fibrosis (CF) is the most common life-limiting recessive genetic disorder in Caucasians, with an incidence of ~1 in 3200 newborns (1). The disease is less common in Hispanic Americans (1 in 9200), African Americans (1 in 15 000), and Asian Americans (1 in 31 000) (2). The diagnosis of CF requires the presence of one or more characteristic phenotypic features, a history of CF in a sibling, or a positive newborn screening test result plus laboratory evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction (3). Although sweat chloride testing continues to be the laboratory test of choice, DNA testing is growing in popularity, especially in situations where sweat testing is unavailable or ambiguous. In 1999, 9.1% of patients attending CF centers in the United States had DNA analysis as a confirmatory diagnostic test (4). Furthermore, DNA testing is the only method available that can readily identify the carriers of CF mutations and, therefore, is the only tool for CF carrier screening.

The gene responsible for CF, the CFTR gene, was identified by positional cloning (5)(6). Nearly 1000 putative disease-associated mutations have been reported in CFTR, but only a few dozen have a frequency >0.1% in the general population (1)(7). Thus, efficient and accurate population screening for CF requires an assay that can simultaneously detect the mutated and wild-type sequences of ~30 CF alleles. We have developed the Research Prototype Cystic Fibrosis Assay-31, which uses multiplex PCR (8)(9) and colorimetric detection with sequence-specific oligonucleotide probes immobilized in a linear array on nylon membranes (10. . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


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L. L. Vanscoy, S. M. Blackman, J. M. Collaco, A. Bowers, T. Lai, K. Naughton, M. Algire, R. McWilliams, S. Beck, J. Hoover-Fong, et al.
Heritability of Lung Disease Severity in Cystic Fibrosis
Am. J. Respir. Crit. Care Med., May 15, 2007; 175(10): 1036 - 1043.
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K. Buranawuti, M. P Boyle, S. Cheng, L. L Steiner, K. McDougal, M D. Fallin, C. Merlo, P. L Zeitlin, B. J Rosenstein, P. J Mogayzel Jr, et al.
Variants in mannose-binding lectin and tumour necrosis factor {alpha} affect survival in cystic fibrosis
J. Med. Genet., March 1, 2007; 44(3): 209 - 214.
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X. Wang, J. Kim, R. McWilliams, and G. R. Cutting
Increased Prevalence of Chronic Rhinosinusitis in Carriers of a Cystic Fibrosis Mutation
Arch Otolaryngol Head Neck Surg, March 1, 2005; 131(3): 237 - 240.
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