The detection of large deletions or duplications in genomic DNA

Human Mutation

Volumn 20, Issue 5, 2002, Pages 325-337

  Armour, J A L ^a   Barton, D E ^b   Cockburn, D J ^c   Taylor, G R ^c  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

DNA array; Gene deletion; Gene dosage; Gene duplication; Genetic testing; Mutation detection; SNP

Indexed keywords

GENOMIC DNA;

ALLELE; CYTOGENETICS; DNA HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENOTYPE; HETEROZYGOSITY; HUMAN; INTERMETHOD COMPARISON; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REVIEW; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; CYTOGENETIC ANALYSIS; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENOME, HUMAN; HUMANS; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION;

EID: 0036409283     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10133     Document Type: Review

References (96)

1. Armour JAL, Sismani C, Patsalis PC, Cross G. 2000. Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605-609.
2. Azofeifa J, Fauth C, Kraus J, Maierhofer C, Langer S, Bolzer A, Reichman J, Schuffenhauer S, Speicher MR. 2000. An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH. Am J Hum Genet 66:1684-1688.
3. Barnes WM. 1992. The fidelity of Taq polymerase catalyzing PCR is improved by an N-terminal deletion. Gene 112:29-35.
4. Becker-Andre M, Hahlbrock K. 1989. Absolute mRNA quantification using the polymerase chain reaction (PCR). A novel approach by a PCR aided transcript titration assay (PATTY). Nucleic Acids Res 17:9437-9446.
5. Bentz M, Plesch A, Stilgenbauer S, Dohner H, Lichter P 1998. Minimal sizes of deletions detected by comparative genomic hybridization. Genes Chromosomes Cancer 21:172-175.
6. Bezrookove V, Hansson K, van der BM, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C. 2000. Individuals with abnormal phenotype and normal G-banding karyotype: Improvement and limitations in the diagnosis by the use of 24-colour FISH. Hum Genet 106:392-398.
7. Bonifas JM, Epstein EH Jr. 1990. Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation. J Invest Dermatol 95:16-19.
8. Borriello F, Weinberg DS, Mutter GL. 1994. Evaluation of gene deletions by quantitative polymerase chain-reaction-experience with the alpha-thalassemia model. Diagn Mol Pathol 3:246-254.
9. Brandt B, Vogt U, Harms F, Bosse U, Zanker KS, Assmann G. 1995. Double-differential PCR for gene dosage estimation of erbB oncogenes in benign and cancer tissues and comparison to cellular DNA content. Gene 159:29-34.
10. Brazma A, Hingamp P, Quackenbush J, Sherlock G, Spellman P, Stoeckert C, Aach J, Ansorge W, Ball CA, Causton HC, Gaasterland T, Glenisson P, Holstege FC, Kim IF, Markowitz V, Matese JC, Parkinson H, Robinson A, Sarkans U, Schulze-Kremer S, Stewart J, Taylor R, Vilo J, Vingron M. 2001. Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nat Genet 29:365-371.
11. Brice A, Ravise N, Stevanin G, Gugenheim M, Bouche P, Penet C, Agid Y. 1992. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type la. The French CMT research group. J Med Genet 29:807-812.
12. Brockmoller J, Gross D, Kerb R, Drakoulis N, Roots I. 1992. Correlation between trans-stilbene oxide-glutathione conjugation activity and the deletion mutation in the glutathione S-transferase class mu gene detected by polymerase chain reaction. Biochem Pharmacol 43:647-650.
13. Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Moller C, Pulst SM, Harder H, Heiberg A, Honda M, Niimura M, Sahlen S, Blennow E, Albertson DG, Pinkel D, Dumanski JP. 2001. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 10:271-282.
14. Buetow KH, Edmonson M, MacDonald R, Clifford R, Yip P, Kelley J, Little DP, Strausberg R, Koester H, Cantor CR, Braun A. 2001. High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Proc Natl Acad Sci USA 98:581-584.
15. Celi FS, Cohen MM, Antonarakis SE, Wertheimer E, Roth J, Shuldiner AR. 1994. Determination of gene dosage by a quantitative adaptation of the polymerase chain-reaction (Gd-pcr). Rapid detection of deletions and duplications of gene-sequences. Genomics 21:304-310.
16. Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M. 2000. Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600 + 15kbdel5.3kb (or CFTRdel19). Clin Chem 46:1417-1420.
17. CoulterMackie MB, Applegarth DA, Toone JR, Gagnier L. 1998. A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion. Clin Biochem 31:627-632.
18. Den Dunnen JT, Bakker E, Breteler EG, Pearson PL, van Ommen GJ. 1987. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 329:640-642.
19. Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paasen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. 1989. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847.
20. Duponchel C, Di Rocco C, Cicardi M, Tosi M. 2001. Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Hum Mutat 17:61-70.
21. Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V. 2000. Apparent sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. Am J Med Genet 91:273-276.
22. Fan JB, Chen X, Halushka MK, Berno A, Huang X, Ryder T, Lipshutz RJ, Lockhart DJ, Chakravarti A. 2000. Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. Genome Res 10:853-860.
23. Flintoff KJ, Sheridan E, Turner G, Chu CE, Taylor GR. 2001. Submicroscopic deletions of the APC gene: A frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J Med Genet 38:129-132.
24. Fromenty B, Manfredi G, Sadlock J, Zhang L, King MP, Schon EA. 1996. Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR. Biochim Biophys Acta 1308:222-230.
25. Gelfi C, Cossu G, Carta P, Serra M, Righetti PG. 1995. Gene dosage in capillary electrophoresis: Pre-natal diagnosis of Down's syndrome. J Chromatogr A 718:405-412.
26. Germer S, Holland MJ, Higuchi R. 2000. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res 10:258-266.
27. Gibson NJ, Gillard HL, Whitcombe D, Ferrie RM, Newton CR, Little S. 1997. A homogeneous method for genotyping with fluorescence polarization. Clin Chem 43:1336-1341.
28. Grant SF, Kristjansdottir H, Steinsson K, Blondal T, Yuryev A, Stefansson K, Gulcher JR. 2000. Long PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3. J Immunol Methods 244:41-47.
29. Head SR, Rogers YH, Parikh K, Lan G, Anderson S, Goelet P, BoyceJacino MT 1997. Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor suppressor gene. Nucleic Acids Res 25:5065-5071.
30. Hodgson G, Hager JH, Volik S, Hariono S, Wernick M, Moore D, Nowak N, Albertson DG, Pinkel D, Collins C, Hanahan D, Gray JW. 2001. Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas. Nat Genet 29:459-464.
31. Hoogendoorn B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, Austin J, Stephens MK, Buckland PR, Owen MJ, O'Donovan MC. 2000. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet 107:488-493.
32. Hui AB, Lo KW, Teo PM, To KF, Huang DP. 2002. Genome wide detection of oncogene amplifications in nasopharyngeal carcinoma by array based comparative genomic hybridization. Int J Oncol 20:467-473.
33. Kim SH, Chi JG, Reith A, Kadenbach B. 1997. Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO. Biochim Biophys Acta 1360:193-195.
34. Kim SH, Bae JH, Chae JJ, Kim UK, Choe SJ, Namkoong Y, Kim HS, Park YB, Lee CC. 1999. Long-distance PCR-based screening for large rearrangements of the LDL receptor gene in Korean patients with familial hypercholesterolemia. Clin Chem 45:1424-1430.
35. Kraft T, Sall T 1999. An evaluation of the use of pooled samples in studies of genetic variation. Heredity 82:488-494.
36. Kraus J, Weber RG, Cremer M, Seebacher T, Fischer C, Schurra C, Jauch A, Lichter P, Bensimon A, Cremer T 1997. High-resolution comparative hybridization to combed DNA fibers. Hum Genet 99:374-380.
37. Krawczak M, Cooper DN. 1997. The human gene mutation database. Trends Genet 13:121-122.
38. Krook A, Stratton IM, O'Rahilly S. 1992. Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: Application to the study of insulin-responsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes. Hum Mol Genet 1:391-395.
39. Kunkel LM. 1986. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73-77.
40. Laan M, Gron-Virta K, Salo A, Aula P, Peltonen L, Palotie A, Syvanen AC. 1995. Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number. Hum Genet 96:275-280.
41. Laurendeau I, Bahuau M, Vodovar N, Larramendy C, Olivi M, Bieche I, Vidaud M, Vidaud D. 1999. TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency. Clin Chem 45:982-986.
42. Lee HH, Chang JG, Lin SP, Chao HT, Yang ML, Ng HT 1997. Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet 99:364-367.
43. Lipshutz RJ. 1999. High Density Synthetic Oligonucleotide Arrays.
44. Loeffler J, Hagmeyer L, Hebart H, Henke N, Schumacher U, Einsele H. 2000. Rapid detection of point mutations by fluorescence resonance energy transfer and probe melting curves in Candida species. Clin Chem 46:631-635.
45. Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A. 1996. Recombination hot spot in a 3.2-kb region of the Charcot-MarieTooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT collaborative research group. Am J Hum Genet 58:1223-1230.
46. Macville M, Veldman T, Padilla-Nash H, Wangsa D, O'Brien P, Schrock E, Ried T 1997. Spectral karyotyping, a 24-colour FISH technique for the identification of chromosomal rearrangements. Histochem Cell Biol 108:299-305.
47. Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. 2001. Development and implementation of a new rapid aneuploidy diagnostic service within the UK national health service and implications for the future of prenatal diagnosis. Lancet 358:1057-1061.
48. Mansfield ES. 1993. Diagnosis of down-syndrome and other aneuploidies using quantitative polymerase chain-reaction and small tandem repeat polymorphisms. Hum Mol Genet 2:43-50.
49. Mathew CG, Rousseau J, Rees JS, Harley EH. 1983. The molecular basis of alpha thalassaemia in a South African population. Br J Haematol 55:103-111.
50. Meersma GJ, Bakker M, Groen HJ, Van der Zee AG, Jensen PB, Giaccone G, De Vries EG, Smit EE 1999. A PCR-aided transcript titration assay (PATTY) to measure topoisomerase I gene expression in human tumor specimens. Anticancer Res 19:1309-1315.
51. Meyer UA, Zanger UM. 1997. Molecular mechanisms of genetic polymorphisms of drug metabolism. Annu Rev Pharmacol Toxicol 37:269-296.
52. M'soka TJ, Nishioka J, Taga A, Kato K, Kawasaki H, Yamada Y, Yu A, Komada Y, Nobori T 2000. Detection of methylthioadenosine phosphorylase (MTAP) and p16 gene deletion in T cell acute lymphoblastic leukemia by real-time quantitative PCR assay. Leukemia 14:935-940.
53. Nathans J, Thomas D, Hogness DS. 1986. Molecular genetics of human color vision: The genes encoding blue, green, and red pigments. Science 232:193-202.
54. Nelis E, van Broeckhoven C, De Jonghe P, Lofgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A. 1996. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur J Hum Genet 4:25-33.
55. Neubauer A, Neubauer B, Liu E. 1990. Polymerase chain reaction based assay to detect allelic loss in human DNA: Loss of beta-interferon gene in chronic myelogenous leukemia. Nucleic Acids Res 18:993-998.
56. Nickerson DA, Whitehurst C, Boysen C, Charmley P, Kaiser R, Hood L. 1992. Identification of clusters of biallelic polymorphic sequence-tagged sites (Pstss) That generate highly informative and automatable markers for genetic-linkage mapping. Genomics 12:377-387.
57. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B. 1995. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1:1203-1206.
58. Orkin SH, Alter BP, Altay C, Mahoney MJ, Lazarus H, Hobbins JC, Nathan DG. 1978. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion. N Engl J Med 299:166-172.
59. Parsons DW, McAndrew PE, Allinson PS, Parker WD, Burghes AM, Prior TW. 1998. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis. J Med Genet 35:674-676.
60. Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syvanen AC. 2000. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res 10:1031-1042.
61. Payne SR, Newman B, King MC. 2000. Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer 29:58-62.
62. Pemble S, Schroeder KR, Spencer SR, Meyer DJ, Hallier E, Bolt HM, Ketterer B, Taylor JB. 1994. Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism. Biochem J 300:271-276.
63. Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJB, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RCM, Peters DJM, Breuning MH. 2000. Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37:168-176.
64. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van't Veer LJ, Bakker E, van Ommen GJ, Devilee P. 1997. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345.
65. Piggee CA, Muth J, Carrilho E, Karger BL. 1997. Capillary electrophoresis for the detection of known point mutations by single-nucleotide primer extension and laser-induced fluorescence detection. J Chromatogr A 781:367-375.
66. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
67. Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO. 1999. Genome-wide analysis of DNA copy-number changes using cDNA microarrays. Nat Genet 23:41-46.
68. Puget N, StoppaLyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S. 1999. Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59:455-461.
69. Rechitsky S, Verlinsky O, Amet T, Rechitsky M, Kouliev T, Strom C, Verlinsky Y. 2001. Reliability of preimplantation diagnosis for single gene disorders. Mol Cell Endocrinol 183 (Suppl 1):S65-S68.
70. Ronaghi M, Nygren M, Lundeberg J, Nyren P. 1999. Analyses of secondary structures in DNA by pyrosequencing. Anal Biochem 267:65-71.
71. Ross P, Hall L, Haff LA. 2000. Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry (in process citation). Biotechniques 29:620-629.
72. Rowland JS, Barton DE, Taylor GR. 2001. A comparison of methods for gene dosage analysis in HMSN type 1. J Med Genet 38:90-95.
73. Ruiz-Ponte C, Loidi L, Vega A, Carracedo A, Barros E 2000. Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions. Clin Chem 46:1574-1582.
74. Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Mullikin JC, Mortimore BJ, Willey DL, Hunt SE, Cole CG, Coggill PC, Rice CM, Ning ZM, Rogers J, Bentley DR, Kwok PY, Mardis ER, Yeh RT, Schultz B, Cook L, Davenport R, Dante M, Fulton L, Hillier L, Waterston RH, McPherson JD, Gilman B, Schaffner S, Van Etten WJ, Reich D, Higgins J, Daly MJ, Blumenstiel B, Baldwin J, Stange-Thomann NS, Zody MC, Linton L, Lander ES, Altshuler D. 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409:928-933.
75. Sasaki T, Tahira T, Suzuki A, Higasa K, Kukita Y, Baba S, Hayashi K. 2001. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA. Am J Hum Genet 68:214-218.
76. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57.
77. Shi MM, Myrand SP, Bleavins MR, de la Iglesia FA. 1999. High-throughput genotyping method for glutathione S-transferase T1 and M1 gene deletions using TaqMan probes. Res Commun Mol Pathol Pharmacol 103:3-15.
78. Sismani C, Armour JA, Flint J, Girgalli C, Regan R, Patsalis PC. 2001. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multi-probe telomeric FISH and the new MAPH telomeric assay. Eur J Hum Genet 9:527-532.
79. Slateva K, Elsner HA, Albis-Camps M, Blasczyk R. 2001. HLA-DRB fluorotyping by dark quenching and automated analysis. Tissue Antigens 58:250-254.
80. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, Hamilton G, Hindle AK, Huey B, Kimura K, Law S, Myambo K, Palmer J, Ylstra B, Yue JP, Gray JW, Jain AN, Pinkel D, Albertson DG. 2001. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29:263-264.
81. Sokolov BP. 1990. Primer extension technique for the detection of single nucleotide in genomic DNA. Nucleic Acids Res 18:3671.
82. Steen VM, Andreassen OA, Daly AK, Tefre T, Borresen AL, Idle JR, Gulbrandsen AK. 1995. Detection of the poor metabolizer-associated cyp2d6(d) gene deletion allele by long-pcr technology. Pharmacogenetics 5:215-223.
83. Takeo S, Arai H, Kusano N, Harada T, Furuya T, Kawauchi S, Oga A, Hirano T, Yoshida T, Okita K, Sasaki K. 2001. Examination of oncogene amplification by genomic DNA microarray in hepatocellular carcinomas: Comparison with comparative genomic hybridization analysis. Cancer Genet Cytogenet 130:127-132.
84. Thelwell N, Millington S, Solinas A, Booth J, Brown T 2000. Mode of action and application of scorpion primers to mutation detection. Nucleic Acids Res 28:3752-3761.
85. Tyagi S, Kramer FR. 1996. Molecular beacons: Probes that fluoresce upon hybridization. Nat Biotechnol 14:303-308.
86. Uehara H, Nardone G, Nazarenko I, Hohman RJ. 1999. Detection of telomerase activity utilizing energy transfer primers: Comparison with gel- and ELISA-based detection. Biotechniques 26:552-558.
87. van de Rijke FM, Florijn RJ, Tanke HJ, Raap AK. 2000. DNA fiber-FISH staining mechanism. J Histochem Cytochem 48:743-745.
88. van Essen AJ, Kneppers AL, van der Hour AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. 1997. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: An updated protocol. J Med Genet 34:805-812.
89. Voskova-Goldman A, Peier A, Caskey CT, Richards CS, Shaffer LG. 1997. DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions. Neurology 48:1633-1638.
90. Wang DG, Fan JB, Siao CJ, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell E, Robinson E, Mittmann M, Morris MS, Shen N, Kilburn D, Rioux J, Nusbaum C, Rozen S, Hudson TJ, Lander ES. 1998. Large-scale identification, mapping, and genotyping of singlenucleotide polymorphisms in the human genome. Science 280:1077-1082.
91. Whitcombe D, Theaker J, Guy SP, Brown T, Little S. 1999. Detection of PCR products using self-probing amplicons and fluorescence. Nat Biotechnol 17:804-807.
92. Wijnen J, vanderKlift H, Vasen H, Khan PM, Menko F, Tops C, Heijboer HM, Lindhout D, Moller P, Fodde R. 1998. MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20:326-328.
93. Winderickx J, Battisti L, Motulsky AG, Deeb SS. 1992. Selective expression of human X chromosome-linked green opsin genes. Proc Natl Acad Sci USA 89:9710-9714.
94. Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. 1993. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 53:853-863.
95. Worley KC, Lindsay EA, Bailey W, Wise J, Mccabe EB, Baldini A. 1995. Rapid molecular cytogenetic analysis of x-chromosomal microdeletions-fluorescence in-situ hybridization (Fish) For complex glycerol kinase-deficiency. Am J Med Genet 57:615-619.
96. Yau SC, Bobrow M, Mathew CG, Abbs SJ. 1996. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 33:550-558.