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Volumn 1, Issue 2, 2000, Pages 231-235

Approaches to allele frequency determination

Author keywords

Allele frequency; Complex trait analysis; DNA pooling; DNA sequencing; Invader assay; Quantitative PCR; Single nucleotide polymorphisms; Taqman assay

Indexed keywords

DNA;

EID: 0034189694     PISSN: 14622416     EISSN: None     Source Type: Journal    
DOI: 10.1517/14622416.1.2.231     Document Type: Review
Times cited : (25)

References (30)
  • 1
    • 0030688004 scopus 로고    scopus 로고
    • Variations on a theme: Cataloging human DNA sequence variation
    • COLLINS FS, GUYER MS, CHAKRAVARTI A: Variations on a theme: Cataloging human DNA sequence variation. Science (1997) 278:1580-1581.
    • (1997) Science , vol.278 , pp. 1580-1581
    • Collins, F.S.1    Guyer, M.S.2    Chakravarti, A.3
  • 3
    • 0033574303 scopus 로고    scopus 로고
    • Drug firms to create public database of genetic mutations
    • MARSHALL E: Drug firms to create public database of genetic mutations. Science (1999) 284:406-407.
    • (1999) Science , vol.284 , pp. 406-407
    • Marshall, E.1
  • 4
    • 0031035007 scopus 로고    scopus 로고
    • Polymorphisms in drug-metabolizing enzymes: What is their clinical relevance and why do they exist?
    • NEBERT DW: Polymorphisms in drug-metabolizing enzymes: What is their clinical relevance and why do they exist? Am. J. Hum. Genet. (1997) 60:265-271.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 265-271
    • Nebert, D.W.1
  • 5
    • 0032091881 scopus 로고    scopus 로고
    • Why pharmacogenomics? Why now?
    • HOUSEMAN D, LEDLEY FD: Why pharmacogenomics? Why now? Nature Biotech. (1998) 16(Suppl.):2-3.
    • (1998) Nature Biotech. , vol.16 , Issue.SUPPL. , pp. 2-3
    • Houseman, D.1    Ledley, F.D.2
  • 6
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • RISCH N, MERIKANGAS K: The future of genetic studies of complex human diseases. Science (1996) 273:1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 7
    • 0033039497 scopus 로고    scopus 로고
    • Prospects for whole-genome genome linkage disequilibrium mapping of common disease genes
    • KRUGLYAK L: Prospects for whole-genome genome linkage disequilibrium mapping of common disease genes. Nature Gen. (1999) 22:139-144.
    • (1999) Nature Gen. , vol.22 , pp. 139-144
    • Kruglyak, L.1
  • 8
    • 0027485238 scopus 로고
    • Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples
    • PACEK P, SAJANTILA A, SYVANEN AC: Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples. PCR Methods Appl. (1993) 2:313-317.
    • (1993) PCR Methods Appl. , vol.2 , pp. 313-317
    • Pacek, P.1    Sajantila, A.2    Syvanen, A.C.3
  • 9
    • 0034094854 scopus 로고    scopus 로고
    • Determining SNP allele frequencies in DNA pools
    • BREEN G, HAROLD D, RALSTON S, SHAW D, ST CLAIR D: Determining SNP allele frequencies in DNA pools. Biotechniques (2000) 28:464-470. A thorough comparison between PCR-RFLP and Taqman allele frequency estimation approaches.
    • (2000) Biotechniques , vol.28 , pp. 464-470
    • Breen, G.1    Harold, D.2    Ralston, S.3    Shaw, D.4    St Clair, D.5
  • 10
    • 0028086580 scopus 로고
    • Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products
    • KWOK PY, CARLSON C, YAGER TD, ANKENER W, NICKERSON DA: Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics (1994) 23:138-144. A good introduction to allele frequency estimation by pooled DNA sequencing.
    • (1994) Genomics , vol.23 , pp. 138-144
    • Kwok, P.Y.1    Carlson, C.2    Yager, T.D.3    Ankener, W.4    Nickerson, D.A.5
  • 11
    • 0034090681 scopus 로고    scopus 로고
    • High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
    • GERMER S, HOLLAND MJ, HIGUCHI R: High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res. (2000) 10:258-266. A good article on the kinetic PCR approach to allele frequency estimation.
    • (2000) Genome Res. , vol.10 , pp. 258-266
    • Germer, S.1    Holland, M.J.2    Higuchi, R.3
  • 12
    • 0033042156 scopus 로고    scopus 로고
    • Efficient approach to unique single-nucleotide polymorphism discovery
    • TAILLON-MILLER P, PIERNOT EE, KWOK PY: Efficient approach to unique single-nucleotide polymorphism discovery. Genome Res. (1999) 9:499-505.
    • (1999) Genome Res. , vol.9 , pp. 499-505
    • Taillon-Miller, P.1    Piernot, E.E.2    Kwok, P.Y.3
  • 13
    • 0032706623 scopus 로고    scopus 로고
    • A general approach to single-nucleotide polymorphism discovery
    • MARTH GT, KORF I, YANDELL MD et al.: A general approach to single-nucleotide polymorphism discovery. Nature Gen. (1999) 23:452-456.
    • (1999) Nature Gen. , vol.23 , pp. 452-456
    • Marth, G.T.1    Korf, I.2    Yandell, M.D.3
  • 14
    • 0033006003 scopus 로고    scopus 로고
    • Allelic discrimination using fluorogenic probes and the 5′ nuclease assay
    • LIVAK KJ: Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Gen. Anal. (1999) 14:143-149.
    • (1999) Gen. Anal. , vol.14 , pp. 143-149
    • Livak, K.J.1
  • 16
    • 0031983834 scopus 로고    scopus 로고
    • Multicolor molecular beacons for allele discrimination
    • TYAGI S, BRATU DP, KRAMER FR: Multicolor molecular beacons for allele discrimination. Nature Biotech. (1998) 16:49-53.
    • (1998) Nature Biotech. , vol.16 , pp. 49-53
    • Tyagi, S.1    Bratu, D.P.2    Kramer, F.R.3
  • 17
    • 0032549128 scopus 로고    scopus 로고
    • Spectral genotyping of human alleles
    • KOSTRIKIS LG, TYAGI S, MHLANGA MM et al.: Spectral genotyping of human alleles. Science (1998) 279:1228-12229.
    • (1998) Science , vol.279 , pp. 1228-12229
    • Kostrikis, L.G.1    Tyagi, S.2    Mhlanga, M.M.3
  • 18
    • 0032998425 scopus 로고    scopus 로고
    • Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
    • LYAMICHEV V, MAST AL, HALL JG et al.: Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes. Nature Biotech. (1999) 17:292-296. Good introduction to the invader assay and some of its applications.
    • (1999) Nature Biotech. , vol.17 , pp. 292-296
    • Lyamichev, V.1    Mast, A.L.2    Hall, J.G.3
  • 19
    • 17344387757 scopus 로고    scopus 로고
    • Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation
    • MEIN CA, BARRATT BJ, DUNN MG et al: Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation. Genome Res. (2000) 10:330-343.
    • (2000) Genome Res. , vol.10 , pp. 330-343
    • Mein, C.A.1    Barratt, B.J.2    Dunn, M.G.3
  • 20
    • 0034085730 scopus 로고    scopus 로고
    • DNAzy-PCR: Use of DNAzymes to detect and quantify nucleic acid sequences in a real-time fluorescent format
    • In press
    • TODD AV, FUERY CJ, IMPEY HL, APPLEGATE RL, HAUGHTON MA: DNAzy-PCR: use of DNAzymes to detect and quantify nucleic acid sequences in a real-time fluorescent format. Clinical Chem. (2000) (In press). A good treatment of allele-specific PCR with DNAzyme cleavage of a probe as the detection method.
    • (2000) Clinical Chem.
    • Todd, A.V.1    Fuery, C.J.2    Impey, H.L.3    Applegate, R.L.4    Haughton, M.A.5
  • 21
    • 0030890116 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry
    • HAFF LA, SMIRNOV IP: Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res. (1997) 7:378-388.
    • (1997) Genome Res. , vol.7 , pp. 378-388
    • Haff, L.A.1    Smirnov, I.P.2
  • 23
    • 0033020685 scopus 로고    scopus 로고
    • Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry
    • LI J, BUTLER JM, TAN Y et al: Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry. Electrophoresis (1999) 20:1258-1265.
    • (1999) Electrophoresis , vol.20 , pp. 1258-1265
    • Li, J.1    Butler, J.M.2    Tan, Y.3
  • 24
    • 0031790040 scopus 로고    scopus 로고
    • Use of isolated inbred human populations for identification of disease genes
    • SHEFFIELD VC, STONE EM, CARMI R: Use of isolated inbred human populations for identification of disease genes. Trends Genet. (1998) 14:391-396.
    • (1998) Trends Genet. , vol.14 , pp. 391-396
    • Sheffield, V.C.1    Stone, E.M.2    Carmi, R.3
  • 25
    • 0028000502 scopus 로고
    • Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
    • SHEFFIELD VC, CARMI R, KWITEK-BLACK A et al.: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet. (1994) 3:1331-1335.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1331-1335
    • Sheffield, V.C.1    Carmi, R.2    Kwitek-Black, A.3
  • 26
    • 0029925102 scopus 로고    scopus 로고
    • A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
    • NYSTUEN A, BENKE PJ, MERREN J, STONE EM, SHEFFIELD VC: A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum. Mol. Genet. (1996) 5:525-531.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 525-531
    • Nystuen, A.1    Benke, P.J.2    Merren, J.3    Stone, E.M.4    Sheffield, V.C.5
  • 27
    • 0029811339 scopus 로고    scopus 로고
    • An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
    • SCOTT DA, CARMI R, ELBEDOUR K, YOSEFSBERG S, STONE EM, SHEFFIELD VC: An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet. (1996) 59:385-391. A good example of how DNA pooling can be used in disease gene studies.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 385-391
    • Scott, D.A.1    Carmi, R.2    Elbedour, K.3    Yosefsberg, S.4    Stone, E.M.5    Sheffield, V.C.6
  • 28
    • 0031889566 scopus 로고    scopus 로고
    • Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes
    • SHAW SH, CARRASQUILLO MM, KASHUK C, PUFFEN-BERGER EG, CHAKRAVARTI A: Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res. (1998) 8:111-123. A thorough discussion of the power of studying pooled DNA samples in complex disease traits.
    • (1998) Genome Res. , vol.8 , pp. 111-123
    • Shaw, S.H.1    Carrasquillo, M.M.2    Kashuk, C.3    Puffen-Berger, E.G.4    Chakravarti, A.5
  • 29
    • 0031925113 scopus 로고    scopus 로고
    • Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease
    • DAMJI KF, GALLIONE CJ, ALUNGHAM RR et al.: Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. Hum. Genet. (1998) 102:207-212. A thorough discussion of the power of studying pooled DNA samples in linkage analysis.
    • (1998) Hum. Genet. , vol.102 , pp. 207-212
    • Damji, K.F.1    Gallione, C.J.2    Alungham, R.R.3
  • 30
    • 0031981997 scopus 로고    scopus 로고
    • A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies
    • DANIELS J, HOLMANS P, WILLIAMS N et al.: A simple method for analyzing microsatellite allele image patterns generated from DNA pools and its application to allelic association studies. Am. J. Hum. Genet. (1998) 62:1189-1197.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1189-1197
    • Daniels, J.1    Holmans, P.2    Williams, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.