메뉴 건너뛰기




Volumn 20, Issue 6, 2002, Pages 463-472

Proposal for an Allele nomenclature system based on the evolutionary divergence of haplotypes

Author keywords

Allele; Bioinformatics; Evolution; Haplotype; Nomenclature; Variation

Indexed keywords

ALLELE; DNA SEQUENCE; EVOLUTION; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENOME; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN GENETICS; NOMENCLATURE; PHARMACOGENETICS; PHENOTYPE; POLLUTANT; PRIORITY JOURNAL; REVIEW;

EID: 0036453494     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10143     Document Type: Review
Times cited : (23)

References (63)
  • 1
    • 0028511149 scopus 로고
    • The intricacies of β-globin gene expression
    • Andrin C, Spencer C. 1994. The intricacies of β-globin gene expression. Biochem Cell Biol 72:377-380.
    • (1994) Biochem Cell Biol , vol.72 , pp. 377-380
    • Andrin, C.1    Spencer, C.2
  • 3
    • 0027263071 scopus 로고
    • Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
    • Beutler E. 1993. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90:5384-5390.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 5384-5390
    • Beutler, E.1
  • 5
    • 0025269067 scopus 로고
    • Inference of haplotypes from PCR-amplified samples of diploid populations
    • Clark AG. 1990. Inference of haplotypes from PCR-amplified samples of diploid populations. Mol Biol Evol 7:111-122.
    • (1990) Mol Biol Evol , vol.7 , pp. 111-122
    • Clark, A.G.1
  • 6
    • 0025540526 scopus 로고
    • Identification of carriers by screening for AF508 deletion in a multi-generation cystic fibrosis family
    • Claustres M, Desgeorges M, Kjellberg P, Demaille J. 1990. Identification of carriers by screening for AF508 deletion in a multi-generation cystic fibrosis family. Genet Couns 1:211-217.
    • (1990) Genet Couns , vol.1 , pp. 211-217
    • Claustres, M.1    Desgeorges, M.2    Kjellberg, P.3    Demaille, J.4
  • 7
    • 0031744522 scopus 로고    scopus 로고
    • Proof of "disease-causing" mutation
    • Cotton RG, Scriver CR. 1998. Proof of "disease-causing" mutation. Hum Mutat 12:1-3.
    • (1998) Hum Mutat , vol.12 , pp. 1-3
    • Cotton, R.G.1    Scriver, C.R.2
  • 9
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 10
    • 0032973641 scopus 로고    scopus 로고
    • Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu)
    • Destro-Bisol G, Maviglia R, Caglia A, Boschi I, Spedini G, Pascali V, Clark A, Tishkoff S. 1999. Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu). Hum Genet 104:149-157.
    • (1999) Hum Genet , vol.104 , pp. 149-157
    • Destro-Bisol, G.1    Maviglia, R.2    Caglia, A.3    Boschi, I.4    Spedini, G.5    Pascali, V.6    Clark, A.7    Tishkoff, S.8
  • 11
    • 0022469274 scopus 로고
    • Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
    • DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SL. 1986. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 322:799-803.
    • (1986) Nature , vol.322 , pp. 799-803
    • DiLella, A.G.1    Marvit, J.2    Lidsky, A.S.3    Guttler, F.4    Woo, S.L.5
  • 12
    • 0026740026 scopus 로고
    • Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus
    • Eisensmith RC, Woo SLC. 1992. Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus. Am J Hum Genet 51:1445-1448.
    • (1992) Am J Hum Genet , vol.51 , pp. 1445-1448
    • Eisensmith, R.C.1    Woo, S.L.C.2
  • 13
    • 0026681074 scopus 로고
    • Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data
    • Excoffier L, Smouse PE, Quattro JM. 1992. Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data. Genetics 131:479-491.
    • (1992) Genetics , vol.131 , pp. 479-491
    • Excoffier, L.1    Smouse, P.E.2    Quattro, J.M.3
  • 14
    • 0029130796 scopus 로고
    • Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
    • Excoffier L, Slatkin M. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927.
    • (1995) Mol Biol Evol , vol.12 , pp. 921-927
    • Excoffier, L.1    Slatkin, M.2
  • 19
    • 0029372419 scopus 로고
    • HAPLO: A program using the EM algorithm to estimate the frequencies of multi-site haplotypes
    • Hawley ME, Kidd KK. 1995. HAPLO: A program using the EM algorithm to estimate the frequencies of multi-site haplotypes. J Hered 86:409-411.
    • (1995) J Hered , vol.86 , pp. 409-411
    • Hawley, M.E.1    Kidd, K.K.2
  • 21
    • 0032948850 scopus 로고    scopus 로고
    • Loss of information due to ambiguous haplotyping of SNPs
    • Hodge SE, Boehnke M, Spence MA. 1999. Loss of information due to ambiguous haplotyping of SNPs. Nat Genet 21:360-361.
    • (1999) Nat Genet , vol.21 , pp. 360-361
    • Hodge, S.E.1    Boehnke, M.2    Spence, M.A.3
  • 22
    • 0036155404 scopus 로고    scopus 로고
    • Analysis of six SNPs of the NAT2 gene in Ngawbe and Embera Amerindians of Panama and determination of the Embera acetylation phenotype using caffeine
    • Jorge-Nebert LF, Eichelbaum M, Griese EU, Inaba T, Arias TD. 2002. Analysis of six SNPs of the NAT2 gene in Ngawbe and Embera Amerindians of Panama and determination of the Embera acetylation phenotype using caffeine. Pharmacogenetics 12:39-48.
    • (2002) Pharmacogenetics , vol.12 , pp. 39-48
    • Jorge-Nebert, L.F.1    Eichelbaum, M.2    Griese, E.U.3    Inaba, T.4    Arias, T.D.5
  • 25
    • 0035094764 scopus 로고    scopus 로고
    • Variation is the spice of life
    • Kruglyak L, Nickerson DA. 2001. Variation is the spice of life. Nat Genet 27:234-236.
    • (2001) Nat Genet , vol.27 , pp. 234-236
    • Kruglyak, L.1    Nickerson, D.A.2
  • 26
    • 0036227306 scopus 로고    scopus 로고
    • The human β-globin locus control region
    • Levings PP, Bungert J. 2002. The human β-globin locus control region. Eur J Biochem 269:1589-1599.
    • (2002) Eur J Biochem , vol.269 , pp. 1589-1599
    • Levings, P.P.1    Bungert, J.2
  • 27
    • 0028913523 scopus 로고
    • An E-M algorithm and testing strategy for multiple-locus haplotypes
    • Long JC, Williams RC, Urbanek M. 1995. An E-M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet 56:799-810.
    • (1995) Am J Hum Genet , vol.56 , pp. 799-810
    • Long, J.C.1    Williams, R.C.2    Urbanek, M.3
  • 31
    • 0036136541 scopus 로고    scopus 로고
    • On the changing meanings of "mutation."
    • Marshall JH. 2002. On the changing meanings of "mutation." Hum Mutat 19:76-78.
    • (2002) Hum Mutat , vol.19 , pp. 76-78
    • Marshall, J.H.1
  • 33
    • 0035201703 scopus 로고    scopus 로고
    • Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1)
    • Mier RJ, Holderbaum D, Ferguson R, Moskowitz R. 2001. Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). Mol Genet Metab 74:338-341.
    • (2001) Mol Genet Metab , vol.74 , pp. 338-341
    • Mier, R.J.1    Holderbaum, D.2    Ferguson, R.3    Moskowitz, R.4
  • 34
    • 0035797929 scopus 로고    scopus 로고
    • RNA interference: It's a small RNA world
    • Moss EG. 2001. RNA interference: It's a small RNA world. Curr Biol 11:R772-R775.
    • (2001) Curr Biol , vol.11
    • Moss, E.G.1
  • 36
    • 0034081306 scopus 로고    scopus 로고
    • Suggestions for the nomenclature of human alleles: Relevance to ecogenetics, pharmacogenetics and molecular epidemiology
    • Nebert DW. 2000. Suggestions for the nomenclature of human alleles: Relevance to ecogenetics, pharmacogenetics and molecular epidemiology. Pharmacogenetics 10:279-290.
    • (2000) Pharmacogenetics , vol.10 , pp. 279-290
    • Nebert, D.W.1
  • 37
    • 0035752835 scopus 로고    scopus 로고
    • Pharmacogenomics, ethnicity, and susceptibility genes
    • Nebert DW, Menon AG. 2001. Pharmacogenomics, ethnicity, and susceptibility genes. The Pharmacogenomics J 1:19-22.
    • (2001) The Pharmacogenomics J , vol.1 , pp. 19-22
    • Nebert, D.W.1    Menon, A.G.2
  • 40
    • 0035900635 scopus 로고    scopus 로고
    • A short primer on RNAi: RNA-directed RNA polymerase acts as a key catalyst
    • Nishikura K. 2001. A short primer on RNAi: RNA-directed RNA polymerase acts as a key catalyst. Cell 107:415-418.
    • (2001) Cell , vol.107 , pp. 415-418
    • Nishikura, K.1
  • 41
    • 0036138183 scopus 로고    scopus 로고
    • Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms
    • Niu T, Qin ZS, Xu X, Liu JS. 2002. Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms. Am J Hum Genet 70:157-169.
    • (2002) Am J Hum Genet , vol.70 , pp. 157-169
    • Niu, T.1    Qin, Z.S.2    Xu, X.3    Liu, J.S.4
  • 42
    • 0036468808 scopus 로고    scopus 로고
    • Linkage disequilibrium: What history has to tell us
    • Nordborg M, Tavaré S. 2002. Linkage disequilibrium: What history has to tell us. Trends Genet 18:83-89.
    • (2002) Trends Genet , vol.18 , pp. 83-89
    • Nordborg, M.1    Tavaré, S.2
  • 43
    • 0033574663 scopus 로고    scopus 로고
    • A unified nomenclature system for the nuclear receptor superfamily
    • Nuclear Receptors Nomenclature Committee. 1999. A unified nomenclature system for the nuclear receptor superfamily. Cell 97:161-163.
    • (1999) Cell , vol.97 , pp. 161-163
  • 45
    • 0033569630 scopus 로고    scopus 로고
    • Genomic views of human history
    • Owens K, King MC. 1999. Genomic views of human history. Science 286:451-453.
    • (1999) Science , vol.286 , pp. 451-453
    • Owens, K.1    King, M.C.2
  • 47
    • 0033358653 scopus 로고    scopus 로고
    • Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
    • Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, Birren B, Korniszewski L, Back E, Scherer G. 1999. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region. Am J Hum Genet 65:111-124.
    • (1999) Am J Hum Genet , vol.65 , pp. 111-124
    • Pfeifer, D.1    Kist, R.2    Dewar, K.3    Devon, K.4    Lander, E.S.5    Birren, B.6    Korniszewski, L.7    Back, E.8    Scherer, G.9
  • 50
    • 0032906340 scopus 로고    scopus 로고
    • Sequence variation in the human angiotensin converting enzyme
    • Rieder MJ, Taylor SL, Clark AG, Nickerson DA. 1999. Sequence variation in the human angiotensin converting enzyme. Nat Genet 22:59-62.
    • (1999) Nat Genet , vol.22 , pp. 59-62
    • Rieder, M.J.1    Taylor, S.L.2    Clark, A.G.3    Nickerson, D.A.4
  • 51
    • 0036381531 scopus 로고    scopus 로고
    • Categorization of humans in biomedical research: Genes, race and disease
    • Risch N, Burchard E, Ziv E, Tang H. 2002. Categorization of humans in biomedical research: Genes, race and disease. Genome Biol 3:1-12.
    • (2002) Genome Biol , vol.3 , pp. 1-12
    • Risch, N.1    Burchard, E.2    Ziv, E.3    Tang, H.4
  • 55
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. 2001b. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989.
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 56
    • 0037034778 scopus 로고    scopus 로고
    • Out of Africa again and again
    • Ternpleton A. 2002. Out of Africa again and again. Nature 416:45-51.
    • (2002) Nature , vol.416 , pp. 45-51
    • Ternpleton, A.1
  • 57
    • 0033855750 scopus 로고    scopus 로고
    • The accuracy of statistical methods for estimation of haplotype frequencies: An example from the CD4 locus
    • Tishkoff SA, Pakstis AJ, Ruano G, Kidd KK. 2000. The accuracy of statistical methods for estimation of haplotype frequencies: An example from the CD4 locus. Am J Hum Genet 67:518-522.
    • (2000) Am J Hum Genet , vol.67 , pp. 518-522
    • Tishkoff, S.A.1    Pakstis, A.J.2    Ruano, G.3    Kidd, K.K.4
  • 58
    • 0036228661 scopus 로고    scopus 로고
    • Complex SNP-based haplotypes in three human helicases: Implications for cancer association studies
    • Trikka D, Fang Z, Renwick A, Jones SH, Chakraborty R, Kimmel M, Nelson DL. 2002. Complex SNP-based haplotypes in three human helicases: Implications for cancer association studies. Genome Res 12:627-639.
    • (2002) Genome Res , vol.12 , pp. 627-639
    • Trikka, D.1    Fang, Z.2    Renwick, A.3    Jones, S.H.4    Chakraborty, R.5    Kimmel, M.6    Nelson, D.L.7
  • 60
    • 0032859206 scopus 로고    scopus 로고
    • Eukaryotic aldehyde dehydrogenase (ALDH) genes: Human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping
    • Vasiliou V, Bairoch A, Tipton KF, Nebert DW. 1999. Eukaryotic aldehyde dehydrogenase (ALDH) genes: Human polymorphisms, and recommended nomenclature based on divergent evolution and chromosomal mapping. Pharmacogenetics 9:421-434.
    • (1999) Pharmacogenetics , vol.9 , pp. 421-434
    • Vasiliou, V.1    Bairoch, A.2    Tipton, K.F.3    Nebert, D.W.4
  • 63
    • 0034822101 scopus 로고    scopus 로고
    • Comparisons of two methods for haplotype reconstruction and haplotype frequency estimation from population data
    • Zhang S, Pakstis AJ, Kidd KK, Zhao H. 2001. Comparisons of two methods for haplotype reconstruction and haplotype frequency estimation from population data. Am J Hum Genet 69:906-914.
    • (2001) Am J Hum Genet , vol.69 , pp. 906-914
    • Zhang, S.1    Pakstis, A.J.2    Kidd, K.K.3    Zhao, H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.