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Review

Molecular diagnosis of cystic fibrosis

Pages 240-256 | Published online: 09 Jan 2014

References

  • Rommens JM, Iannuzzi MC, Kerem B et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059–1065 (1989).
  • Riordan JR, Rommens JM, Kann B et al. Identification of the cytic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066–1073(1989).
  • Kerem B, Rommens JM, Buchanan et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073–1080 (1989).
  • AGOG Preconception and prenatal carrier screening for CF: Clinical and Laboratory Guidelines. American College of Obstetricians and Gynecologists, Washington, DC, USA (2001).
  • Welsh MJ, Tsui L-C, Boat TF, Beaudet AL Cystic Fibrosis. In: The Metabolic and Molecular Bases of Inherited Disease Vol III, (7th Fflition) Scriver CR, Beaudet AL, Sly W Valle D, McGraw Hill (Eds.) 3799–3876 (1995)•
  • Highsmith WE, Burch LH, Boat TE et al.A novel cystic fibrosis gene mutation is common in patients with normal sweat chloride concentrations N Engl. J. Med. 331, 974–980 (1994).
  • Koh J, Sferra TJ, Collins FS. Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity. J. Bia Chem. 268, 15912–15921 (1993).
  • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73, 1251–1254 (1993).
  • Seibert FS, Loo TW Clarke DM et aZ Cystic fibrosis: channel, catalytic and folding properties of the CF1R protein. J. Bioenelgetics Biomembranes 29,429442(1997).
  • Ko YH, Pedersen PL. Frontiers in research on cystic fibrosis: Understanding its molecular and chemical basis and relationship to the pathogenesis of the disease. J. Bioenergetics Biomembranes 29, 417–427 (1997).
  • Guggino WB. Outwardly rectifying chloride channels and CF: a divorce and remarriage. J. Bioenergetics Biomembranes 25,27–35 (1993).
  • Guggino WB. Cystic fibrosis salt/fluid contoversy: in the thick of it. Nature Med 7,888–889 (2001).
  • Bradbury NA, Clark JA, Watkins SC et al. Characterization of the internalization pathways for the cystic fibrosis transmembrane conductance regulator. Am. J. Physiol 276 (Lung Cell Mal Physiol 20), L659—L668 (1999).
  • Goldman MJ, Anderson GM, Stolzenberg ED et al. Human B-Defensin-1 is a salt-senstive antibiotic in lung that is inactivated in cystic fibrosis. Cell 88,553–560 (1997).
  • Davies JC, Geddes DM, Alton EWFW Prospects for gene therapy for cystic fibrosis. Mot Med. Tod. 4,292–299 (1998).
  • Brown T, Langfelder Schwind E. Update and review: Cystic Fibrosis. J. Genet. Counsel. 8,137–162 (1999).
  • ••Good thorough review on CF, in particulargood coverage of genetic counseling.
  • Davis PB, Drumm M, Konstan MW Cystic Fibrosis. Am. J. Respir. Crit. Care Med. 154,1229–1256 (1996).
  • •Good review of CE
  • Friderici KH. Molecular diagnostics for cystic fibrosis. In: DNA Technology in the Clinical Laboratory 17, 59–72 (1997).
  • Grody WW Cystic fibrosis molecular diagnosis, population screening and public policy. Arch. Pathol Lab. Med. 123,1041–1046 (1999).
  • Tolstoi LG, Smith CL Human Genome Project and cystic fibrosis — a symbiotic relationship.' Am. Diet. Assoc. 99,1421–1427 (1999).
  • Makowski GS, Hopfer SM. Cystic fibrosis: Molecular approaches to diagnosis. Ann. Clin. Lab. Science 28, 380–385 (1998).
  • COUteile C, Williams C, Handyside A et al Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis. BMJ299,22–24 (1989).
  • Mennuti MY, Thomson E, Press N. Screening for cystic fibrosis carrier state. Obstet. Gynecol 93,456–461 (1999).
  • Grody WW Cutting GR, Klinger KW et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet. Med. 3,149–154 (2001).
  • Grody WW Desnick RJ. Cystic fibrosis population carrier screening: Here at last — are we ready? Genet. Med. 3,87–90 (2001).
  • NTH Consensus Statement online. Genetic testing for cystic fibrosis Arch. Intern. Med. 159,1529-1539 (1999). (http://text.rilm.nih.govinih/cdc/www/ 106txt.html) 14–16, (1997).
  • Estivill X, Bancells C, Ramos C. Geographic distribution and region origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum. Mutat. 10,135-154 (1997).
  • Le Marechal C, Audrezet MR Quere I et al. Complete and rapid scanning of the cystic fibrosis transmemrane conductance regulator (CFTR) gene by denaturing high performance liquid chromatography (D-HPLC): major implications for genetic counseling Hum. Genet. 108,290–298 (2001).
  • •Study using reverse-phase high performance liquid chromatography to rapidy detect CF variants.
  • Chmiel JF, Drumm ML, Konstan MW et al. Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis. Pediatrics 103,823–826 (1999).
  • Fanen R Clain J, Labarthe R et al Structure-function analysis of a double-mutant cystic fibrosis transmembraine conductance regulator protein occurring in disorders related th cystic fibrosis. FEBS Lett. 452,371–374 (1999).
  • Murray J, Cuckle H, Taylor G et al. Screening for cystic fibrosis. Health Technology Assessment 3,1–97 (1999).
  • •Comprehensive coverage of all aspects of CF screening.
  • Haddow JE, Bradley LA, Palomaki GE et al. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet. Med. 1,129–135 (1999).
  • Wald NJ. Couple screening for cystic fibrosis. Lancet 338, 1318–1319 (1991).
  • Farrell PM, Kosorok MR, Rock MJ et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics 107(1), 1–13 (2001).
  • •Evidence to support CF neonatal scieening benefits.
  • McCloskey M, Redmond AOB, Hill A, Elbom JS. Clinical features associated with a delayed diagnosis of cystic fibrosis. Respiration 402–407 (2000).
  • Merelle ME, Lees CM, Nagelkerke AF, Dezateux C. Newborn screening for cystic fibrosis. Cochrane Database of Systematic Reviews 2, CD001402 (2000).
  • Lai HC, Kosorok MR, Sondel SA et al Growth status in children with cystic fibrosis based on the National Cystic Fibrosis Patient Registry data: evaluation of various criteria used to identify malnutrition." Pediatr. 132, 478–485 (1998).
  • Farrell PM, Aronson RA, Hoffman G et al. Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. Wisconsin Med. 93,415–421 (1994).
  • Gregg RG, Simantel A, Farrell PM et al. Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics 99,819–824 (1997).
  • Cuppens H, Teng H, Jaspers M et al. The M470V polymorphic locus affects CFTR. Pediatr. Pulmonot (Supp1.13), 250 (1996).
  • Chu C-S, Trapnell BC, Murtagh JJ et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBOJ 10,1355–1363 (1991).
  • Gilbert F. Cystic Fibrosis carrier screening: steps in the development of a mutation panel. Genetic Test. 5,223–227 (2001).
  • Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic mutation panel. Genet. Med. 3(3), 168–176 (2001).
  • Morral N, Dork T, Llevadot R et al Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum. Mutat. 8,149-159 (1996).
  • Mekus F, Ballmann M, Bronsveld I et al. Cystic fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. Hum. Genet. 102, 582–586 (1998).
  • Grody WW, Desnick RJ, Carpenter NJ, Noll WW Diversity of cystic fibrosis mutation-screening practices. Am. J. Hum. Genet. 62, 1254–1258 (1998).
  • Dequeker E, Cassiman J-J. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur. J. Hum. Genet. 6, 165–175 (1998).
  • Dequeker E, Cassiman J-J. Genetic testing and quality control in diagnostic laboratories. Nature Genet. 25,259–260 (2000).
  • Dequeker E, Cuppens H, Dodge J et al. Recommendations for quality improvement in genetic testing for cystic fibrosis European concerted action on Cystic Fibrosis. Europ. J. Hum. Genet. 8, S1—S24 (2000).
  • •Comprehensive coverage of quality improvement issues.
  • Genetic testing for cystic fibrosis. National Institutes of Health consensus development conference statement April 14 1615, 1–37 (1997).
  • Tait J, Gibson RE, Marshall SG et al. Cystic Fibrosis. www.genetests.org/
  • ••Best single source for cystic fibrosisclinically relevant information.
  • Hodge SE, Lebo RV, Yesley AR et al. Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation. Am. J. Med. Genet. 82, 329–335 (1999).
  • Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 67, 117–133 (2000).
  • •Good review of genotype-phenotype correlation in CE
  • Kerem E, Kerem B. Genotype-phenotype correlations in cystic fibrosis. Pediatric Pulmonology 22, 387–395 (1996).
  • Mickle JE, Cutting GR. Genotype- phenotype relationships in cystic fibrosis. Med. Chn. N Am. 84, 597–607 (2000).
  • Mak V, Jarvi KA, Zielenski J et al. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens. Hum. Mol. Genet. 6, 2099–2107 (1997).
  • Rohlfs EM, Sugarman EA, Heim RA, Allitto BA. Frequency of carriers of two cystic fibrosis mutations in an apparently unaffected adult population. Genet. Med. 3, 237 (2001).
  • Kiesewetter S, Macek M, Davis C et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 5, 274–278 (1993).
  • Lissens W, Mercier B, Tournaye H et al Cystic fibrosis and infertility caused by congenital absense of the vas deferens and related clinical entities. Hum. Rep rod. 11\(Suppl. 4), 55–78 (1996).
  • Cuppens H, Lin W, Jaspers M et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (TG)n locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J. Chn. Invest. 101, 487–496 (1998).
  • Chu C-S, Trapnell BC, Cuuistin S et al Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRIVA. Nature Genet. 3, 151–156 (1993).
  • Chinon M, Casals T, Mercier B et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl Med. 332, 1475–1480 (1995).
  • Osborne LR, Alton EW. Tsui L-C. CFTRintron 8 poly-T tract length in men with congenital bilateral absence of the vas deferens. Pediatr. Pulmonol 10(Suppl.), 214 (1994).
  • Zielenski J, Patrizio P, Corey M et id CFTR gene variant for patients with congenital absence of vas deferens. Am. J. Hum. Genet. 57, 958–960 (1995).
  • Rosenstein BJ, Cutting GR The diagnosis of cystic fibrosis: a consensus statement. J. Pediatr. 132, 589–595 (1998).
  • Friedman KJ, Silverman LM. Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular diagnostics. Chn. Chem. 45, 929–931(1999).
  • Sharer N, Schwartz M. [Letter] NEJM340, 238–239 (1999).
  • Mak V, Zielenski J, Tsui L-C et al. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive Azoospermia. JANIA 281, 2217–2224 (1999).
  • OTA Report: Cystic fibrosis and DNA Tests: Implications of carrier screening. Washington, DC, USA Congress, Office of Technology Assessment (1992).
  • Cystic Fibrosis Foundation. Cystic fibrosis Patient Registry 1998 Annual Data Report. Cystic Fibrosis Foundation, Bethesda, Maryland. (1998).
  • Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nature Med. 2, 467–469 (1996).
  • Kelley TJ, Al-Nakkash L, Drumm ML CFTR-mediated chloride permeability is regulated by Type III phosphodiesterases in airway epithelial cells. Am. J. Respir. Cell Mot Biol 13, 657–664 (1995).
  • Rubenstein RC. Zeitlin PL. Use of protein repair therapy in the treatment of cystic fibrosis. Curr. Opin. Pediatrics 10, 250–255 (1998).
  • Rubenstein RC, Zeitlin PL. Sodium 4- phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of AF508-CFTR Am. J. Physiot Cell. Physiot 278, C259—C267 (2000).
  • Arispe N, Ma J, Jacobson KA, Pollard HB. Direct activation of cystic fibrosis transmembrane conductance regulator channels by 8-cyclopenty1-1,3-dipropylxanthine (CPX) and 1,3-dially1-8-cyclohexylxanthine (DAX).1 Biol. Chem. 273, 5727–34 (1998).
  • Wang F, Zeltwanger S, Yang IC et aZ Actions of genistein on cystic fibrosis transmembrane conductance regulator channel gating. Evidence for two binding sites with opposite effects, J. General Physiot 111, 477–490 (1998).
  • Zeitlin PL. Therapies directed at the basic defect in cystic fibrosis. Chn. Chest Med. 19, 515–525 (1998).
  • Boucher RC, Stutts MJ, Knowles MR et al. M.+ transport in cystic fibrosis respiratory epithelia:abnormal basal rate and response to adenyl cyclase activation. J. Clin. Invest. 78, 1245–1252 (1986).
  • Eidelman 0, Srivastava M, Zhang J et al. Control of the poinflammatory state in cystic fibrosis lung epithelial cells by genes from the TI\IF-aR/NPKB pathway. Mot Med. 7, 523–534 (2001).
  • Gribkoff VK, Champigny G, Barbry P et al. The substituted benzimidazoione NS004 is an opener of the cystic fibrosis chloride channel' Bia Chem. 269, 10983–10986 (1994).
  • Randell Brown C, Hong-Brown LQ Welch WJ. Strategies for correcting the dF508 CFTR protein-folding defect. J Bioenergetics Biomembranes 29, 491–502 (1997).
  • Welch WJ, Howard M. Antagonists to the rescue.' Gun. Invest.105, 853–854 (2000).
  • Johnson LG, Olsen JC, Sarkadi B et aZ Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nature Genet. 2, 21–25 (1992).
  • Chiba-Falek 0, Kerem E, Shoshani T et aZ The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10kb C>T mutation. Genomics 53, 276–283 (1998).
  • Koch C, Hoiby N. Diagnosis and treatment of cystic fibrosis Respiration 67, 239–247 (2000).
  • Riordan JR Etiology of CF: knowns and unknowns. Pediatric Pulmonology (Supp1.18), 96–99 (1999).
  • Will K, Stuhrmann M, Dean M, Schmidtke J. Alternative splicing in the first nucleotide binding fold of CFTR Hum. MoZ Genet. 2, 231–235 (1993).
  • WiIIK,DorkT,StuhrmannMetaLAnovel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis/ Clin. Invest. 93, 1852–1859 (1994).
  • Nissim-Rafinia M, Chiba-Falek 0, Sharon G et al. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum. Mot Genet. 9, 1771–1778 (2000).
  • Stephenson J. Antibiotics show promise as therapy for genetic disorders. JANIA 285, 2067–2068 (2001).
  • Albelda SM, Wiewrodt R, Zuckerman JB. Gene therapy for lung disease: hype or hope? Ann. InternaZ Med 132, 649–660 (2000).
  • Voss SD, Kruskal JB. Gene therapy: A primer for Radiologists. Radiographics 18, 1343–1372 (1998).
  • Kammouni W, Moreau B, Becq F et al. A cystic fibrosis tracheal gland cell line, CF-KM4 correction by adenovirus-mediated CFTR gene transfer. Am. J Respir. Cell MoZ Biol. 20, 684–691 (1999).
  • Rozmahel R, Wilschanski M, Matin A et aZ Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genet. 12, 280–287 (1996).
  • Rozmahel R, Gyomorey K, Plyte S et al. Incomplete rescue of cystic fibrosis transmembrane conductance regulator deficient mice by the human CFTR cDNA. Hum. Mot Genet. 6, 1153–1162 (1997).
  • Kent G J, Iles R, Bear CE et al. Lung disease in mice with cystic fibrosis. Clin. Invest. 100, 3060–3069 (1997).
  • Cohen JC, Morrow SL, Cork RJ et aZ Molecular Pathophysiology of cystic fibrosis based on the rescue knockout mouse model. MoZ Genet. MetaboZ 64, 108–118 (1998).
  • Zielenski J, Corey M, Rozmahel R et al. Detection of a cystic fibrosis modifier for meconium ileus on human chromosome 19q13. Nature Genet. 22, 128–129 (1999).
  • Garred P, Pressler T, Madsen HO et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis.' Clin. Invest. 104, 431–437 (1999). too Hull J, Thomson AH. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 53, 1018–1021 (1998).
  • Aron Y, Polla BS, Bienvenu T et al. HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype. Am.j Respir. Grit. Care Med. 159, 1464–1468 (1999).
  • Kobayashi K, Knowles MR, Boucher RC et al. Benign missense variations in the cystic fibrosis gene. Am. J Hum. Genet. 47, 611–615 (1990).
  • Fujirnura FK, Northrup H, Beaudet AL et al. Genotyping errors with the polymerase chain reaction. N Engl. J Med 322, 61 (1990).
  • DeMarchi JM, Beaudet AL, Caskey Richards CS. Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations. Arch. PathoZ Lab. Med. 118, 26–32 (1994).
  • Goldberg YK, Brown S, Nakagawa S et al. The 4002Ato G polymorphism of the CFTR gene can interfere with the detection of the common 1282X and 3905insT mutations that occur within exon 20: implications for carrier screening. Am. J Hum. Genet. 69, 407 (2001).
  • Bienvenu T, Bousquet S, Souville I, Beldjord C. Interference of P1290P polymorphism (4002A>G) in molecular detection of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap. Ann. de Biologie Clinique 57,741–742 (1999).
  • Girodon-Boulandet E, Cazeneuve C, Gossens M. Screening practices for mutations in the CFTR gene ABCC7. Hum. Mut. 15, 135–149 (2000).
  • ••Good review of molecular methodsapplied to CE
  • Warren WS, Hamosh A, Egan M, Rsenstein BJ. False-positive results of genetic testing in cystic fibrosis. J Pediatr. 130, 658–660 (1997).
  • Padoa C, Goldman A, Jenkins T, Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin.' Med Genet 36, 41–44 (1999).
  • Morral N, Nunes V, Casals T et aZ Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum. MoZ Genet. 2, 677–681 (1993). iii Shrimpton AE, Borowitz D. A novel cystic fibrosis mutation involving the deletion of exons 14b through 18 (CF?20kbdel 14b-18) in a cystic fibrosis patient of German descent from Upstate New York. Hum. Mutat. (Supp1.1), S330 (1998).
  • Cystic fibrosis Genetic Analysis consortium. Population variation of common cystic fibrosis mutations. Hum. Mutat. 4, 167–177 (1994). www.genet.sickkids.on.ca/cftr/
  • Chinon M, Dork T, Casals T et al. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+11.6kb A>G, produces a new exon: high frequency in spanish cystic fibrosis chromosomes and association with severe phenotype. Am. J Hum. Genet. 56, 623–629 (1995).
  • Dork T, Fislage R, Neumann T et aZ Exon 9 the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum. Genet. 93, 67–73 (1994).
  • Friedman KJ, Heim RA, Knowles MR, Silverman LM. Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum. Mut. 10, 108–115 (1997).
  • Cremonesi L, Carrera P, Fumagalli A et at Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis. Clin. Chem. 45, 35–40 (1999).
  • Cuppens H. Cassiman JJ. Solid-phase fluorescent sequencing of the CFTR gene. Meth. Mot Biol. 167, 63–88 (2001).
  • Nollau P, Wagener C. Methods for detection of point mutations: performance and quality assessment. Clin. Chem. 43, 1114–1128 (1997).
  • Romey M-C, Tuffery S, Desgeoges M et al. Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and protein truncation test. Hum. Genet. 3, 328–332 (1996).
  • DeMarchi JM, Richards CS, Fenwick RG et al. A robotics-assisted procedure for large-scale cystic fibrosis mutation analysis. Hum. Mutat. 4, 281–290 (1994).
  • Shuber AP, Michalowsky LA, Nass GS et al. High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes. Hum. Mot Genet. 6, 337–347 (1997).
  • Lappin S J, Cahlik J, Gold B. Robot printing of reverse dot blot arrays for human mutation detection. Mot Diag. 3, 178–188 (2001).
  • Ferrie RM. Schwarz MJ. Robertson NH et al. Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene. Am. J Hum. Gen. 51, 251–262 (1992).
  • Brinson EC, Adriano T, Bloch Wet al. Introduction to PCR/OLA/SCS, a multiplex DNA test and its application to cystic fibrosis. Genet. Test. 1, 61–68 (1997).
  • Gasparini P, Arbustini E, Restagno G et al. Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis. J Med Screen. 6, 67–69 (1999).
  • Wu Y, Hofstra RM, Scheffer H et al. Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis. Hum. Mutat. 8, 160–167 (1996).
  • Barmy E The ligase chain reaction in a PCR world. [erratum appears in PCRMeth. Appl. 1(2), 149 (1991)]. PCR Meth. Appl. 1, 5–16 (1991).
  • Pastinen T, Kurg A, Metspalu A et at Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 7, 606–614 (1997).
  • Chau CK, Pragliola JJ, Tollett JM et al. A DNA microarray chip for mutation detection within cystic fibrosis transmembrane receptor gene (CFTR) Am. J Hum. Genet. 63, A228 (1998).
  • Cronin MT, Fucini RV, Mee Kim S et al. Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays. Hum. Mutat. 7, 244–255 (1996).
  • Cheng J. Shoffner MA. Hvichia GE. et at H. Investigation of different PCR amplification systems in microfabricated silicon-glass chips. Nucleic Acids Res. 24, 380–385 (1996).
  • Feriotto G, Lucci M, Bianchi Net at Detection of the deltaF508 (F508de1) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology. Hum. Mutat. 13, 390–400 (1999).
  • Zielenski J, Aznarez I, Onay T et al. An efficient protocol for CFTR mutation detection based on multiplex heterduplex analysis (mHET). Fed. Put (Supp1.17), 332 (1998).
  • Cotton RFIG. Slowly but surely towards better scanning for mutations. Trends Genet. 13, 43–46 (1997).
  • Shrimpton AE, Borowitz D, Swender P CF mutation analysis in Upstate New York Hum. Mutat. 10, 436 412 (1997).
  • Liechti-Gallati S, Schneider V, Neeser D, Kraemer R Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur. J Hum. Genet. 7, 590–598 (1999).
  • Crockett AO. Wittwer CT. Fluorescein-labeled oligonucleotides for real-time PCR: using the inherent quenching of deoxyguanosine nucleotides. Anal. Biochem. 290, 89–97 (2001).
  • Kwiatkowski RW, Lyamichev V, de Arruda M, Neri B. Clinical, genetic and pharmacogenetic applications of the Invader assay. Mot Diagn. 4, 353–364 (1999).
  • Higgins GS, Little DP, Koster H. Competitive oligonucleotide single-base extension combined with mass spectrometric detection for mutation screening. Bio Techniques. 23, 710–14 (1997).
  • Liu YH, Bai J, Zhu Y et al. Rapid screening of genetic polymorphisms using buccal cell DNA with detection by matrix-assisted laser desorption/ ionization mass spectrometry. Rap. Commun. Mass Spec. 9, 735–743 (1995).
  • Dumur V, Lafitte JJ, Gervais R et al. Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic hypersectretion. Lancet 335, 1340 (1990).
  • Weiner Miller P, Hamosh A, Macek, Jr. M et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am.j Hum. Genet. 59, 45–51 (1996).
  • Lazaro C, de Cid R, Sunyer J et al. Missense mutations in the cystic fibrosis gene in adult patients with asthma Hum. Mutat. 14, 510–519 (1999).
  • Pignatti PF, Bombieri C, Benetazzo Metal. CFTR gene variant IV58-5T in disseminated bronchiectasis. (Letter) Am. J Hum. Genet. 58, 889–892 (1996).
  • Van der Ven K, Messer L, van der Ven H et al. Cystic fibrosis mutation screening in healthy men with reduced sperm quality. Hum. Reprod. 11, 513–517 (1996).
  • Jarvi K, McCallum S, Zielenski J et at Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmemrane conductance regulator gene mutations. Fertility Sterility 70, 724–728 (1998).
  • Kanavakis E, Tztetis M, Antonialdi T et al. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia. Mol. Hum. Reprod. 4, 333–337 (1998).
  • Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum. Reprod. 10, 1728–1735 (1995).
  • Pignatfi PF, Bombiefi C, Mango Get td Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum. Mot Genet. 4, 635–639 (1995).
  • Wang X, Moylan B, Leopold DA et al Mutation in the gene responsible for cystic fibrosis and predisposition to chronic Rhinosinusitis in the general population. JANIA 284, 1814–1819 (2000).
  • Girodon E, Cazeneuve C, Lebargy F et al. CFTR gene mutations in adults with disseminated bronchiectasis Eta.: J. Hum. Genet. 5, 149–155 (1997).
  • Castellani C, Bonizzato A, Mastella G. CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test." Med. Gen. 34, 297–301 (1997).
  • Ravnik—Glavac M, Glavac D, di Sant' Agnese P et al. Cystic fibrosis gene mutations detected in hereditary pancreatitis. Pflugers Arch. Eur: f Physiol 431(Suppl.), R191-192 (1996).
  • Leoni GB, Pitzalis S, Podda R et al. A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.' Fed. 127, 281–283 (1995).
  • Gervalis R, Dumur V, Letombe B et al. Hypofertility with thick mucus: another form of cystic fibrosis?JANIA 276, 1638 (1996).
  • Cohn JA, Friedman KJ, Noone PG et al. Relationship between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl. Med 339, 653–658 (1998).
  • Sharer N, Schwartz M, Malone G et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J. Med. 339, 645–652 (1998).
  • Irving RM, McMahon R, Clark R, Jones NS. Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyps. Clin Otolaryngol22, 519–521 (1997).
  • Laroche D. Travert G. Abnormal frequency of AF508 mutation in neonatal transitory hyperttypsinaemia. Lancet 337, 55 (1991).
  • Bhartia E, Dune P, Sikora SS et al Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis. AJG 95, 3658–3659 (2000).

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