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Volumn 6, Issue 3, 2012, Pages 381-386

Germline mutations of STR-alleles include multi-step mutations as defined by sequencing of repeat and flanking regions

Author keywords

Exclusion of paternity; Genetic inconsistency; Germline mutation; Mutation rate; Mutational step; Paternity testing

Indexed keywords

ADULT; ARTICLE; AUSTRIA; CHILD; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATERNITY; PRIORITY JOURNAL; PROMOTER REGION; SHORT TANDEM REPEAT; SWITZERLAND;

EID: 84858449299     PISSN: 18724973     EISSN: 18780326     Source Type: Journal    
DOI: 10.1016/j.fsigen.2011.07.015     Document Type: Article
Times cited : (32)

References (37)
  • 1
    • 3042782819 scopus 로고    scopus 로고
    • Microsatellites: Simple sequences with complex evolution
    • DOI 10.1038/nrg1348
    • H. Ellegren Microsatellites: simple sequences with complex evolution Nat. Rev. Genet. 5 2004 435 445 (Pubitemid 38915410)
    • (2004) Nature Reviews Genetics , vol.5 , Issue.6 , pp. 435-445
    • Ellegren, H.1
  • 2
    • 0031778070 scopus 로고    scopus 로고
    • Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat
    • DOI 10.1086/301869
    • B. Brinkmann, M. Klintschar, F. Neuhuber, J. Huhne, and B. Rolf Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat Am. J. Hum. Genet. 62 1998 1408 1415 (Pubitemid 28307110)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.6 , pp. 1408-1415
    • Brinkmann, B.1    Klintschar, M.2    Neuhuber, F.3    Huhne, J.4    Rolf, B.5
  • 3
    • 0034564097 scopus 로고    scopus 로고
    • Microsatellite mutations in the germline: Implications for evolutionary inference
    • H. Ellegren Microsatellite mutations in the germline: implications for evolutionary inference Trends Genet. 16 2000 551 558
    • (2000) Trends Genet. , vol.16 , pp. 551-558
    • Ellegren, H.1
  • 4
    • 0032528264 scopus 로고    scopus 로고
    • Repeat instability at human minisatellites arising from meiotic recombination
    • DOI 10.1093/emboj/17.14.4147
    • A.J. Jeffreys, D.L. Neil, and R. Neumann Repeat instability at human minisatellites arising from meiotic recombination EMBO J. 17 1998 4147 4157 (Pubitemid 28333998)
    • (1998) EMBO Journal , vol.17 , Issue.14 , pp. 4147-4157
    • Jeffreys, A.1    Neil, D.2    Neumann, R.3
  • 5
    • 9144259580 scopus 로고    scopus 로고
    • Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats
    • DOI 10.1002/elps.200406069
    • M. Klintschar, E.M. Dauber, U. Ricci, N. Cerri, U.D. Immel, M. Kleiber, and W.R. Mayr Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats Electrophoresis 25 2004 3344 3348 (Pubitemid 39545250)
    • (2004) Electrophoresis , vol.25 , Issue.20 , pp. 3344-3348
    • Klintschar, M.1    Dauber, E.-M.2    Ricci, U.3    Cerri, N.4    Immel, U.-D.5    Kleiber, M.6    Mayr, W.R.7
  • 6
    • 77954562971 scopus 로고    scopus 로고
    • Haplotype-assisted characterisation of germline mutations at short tandem repeat loci
    • M. Müller, U. Sibbing, C. Hohoff, and B. Brinkmann Haplotype-assisted characterisation of germline mutations at short tandem repeat loci Int. J. Legal Med. 124 2010 177 182
    • (2010) Int. J. Legal Med. , vol.124 , pp. 177-182
    • Müller, M.1    Sibbing, U.2    Hohoff, C.3    Brinkmann, B.4
  • 7
    • 10744226741 scopus 로고    scopus 로고
    • Two distinct modes of microsatellite mutation processes: Evidence from the complete genomic sequences of nine species
    • DOI 10.1101/gr.1416703
    • D. Dieringer, and C. Schlotterer Two distinct modes of microsatellite mutation processes: evidence from the complete genomic sequences of nine species Genome Res. 13 2003 2242 2251 (Pubitemid 37265989)
    • (2003) Genome Research , vol.13 , Issue.10 , pp. 2242-2251
    • Dieringer, D.1    Schlotterer, C.2
  • 9
    • 0030017038 scopus 로고    scopus 로고
    • Microsatellites show mutational bias and heterozygote instability [1]
    • DOI 10.1038/ng0896-390
    • W. Amos, S.J. Sawcer, R.W. Feakes, and D.C. Rubinsztein Microsatellites show mutational bias and heterozygote instability Nat. Genet. 13 1996 390 391 (Pubitemid 26256607)
    • (1996) Nature Genetics , vol.13 , Issue.4 , pp. 390-391
    • Amos, W.1    Sawcer, S.J.2    Feakes, R.W.3    Rubinsztein, D.C.4
  • 10
    • 0034079715 scopus 로고    scopus 로고
    • Heterogeneous mutation processes in human microsatellite DNA sequences
    • DOI 10.1038/74249
    • H. Ellegren Heterogeneous mutation processes in human microsatellite DNA sequences Nat. Genet. 24 2000 400 402 (Pubitemid 30187441)
    • (2000) Nature Genetics , vol.24 , Issue.4 , pp. 400-402
    • Ellegren, H.1
  • 11
    • 0034111151 scopus 로고    scopus 로고
    • The direction of microsatellite mutations is dependent upon allele length
    • DOI 10.1038/74238
    • X. Xu, M. Peng, and Z. Fang The direction of microsatellite mutations is dependent upon allele length Nat. Genet. 24 2000 396 399 (Pubitemid 30187440)
    • (2000) Nature Genetics , vol.24 , Issue.4 , pp. 396-399
    • Xu, X.1    Peng, M.2    Fang, Z.3    Xu, X.4
  • 14
    • 0032986618 scopus 로고    scopus 로고
    • Experimentally observed germline mutations at human micro- and minisatellite loci
    • A. Sajantila, M. Lukka, and A.C. Syvanen Experimentally observed germline mutations at human micro- and minisatellite loci Eur. J. Hum. Genet. 7 1999 263 266 (Pubitemid 29150242)
    • (1999) European Journal of Human Genetics , vol.7 , Issue.2 , pp. 263-266
    • Sajantila, A.1    Lukka, M.2    Syvanen, A.-C.3
  • 15
    • 0029952566 scopus 로고    scopus 로고
    • Complex mutational events at the HumD21S11 locus
    • DOI 10.1007/s004390050160
    • B. Brinkmann, E. Meyer, and A. Junge Complex mutational events at the HumD21S11 locus Hum. Genet. 98 1996 60 64 (Pubitemid 26181283)
    • (1996) Human Genetics , vol.98 , Issue.1 , pp. 60-64
    • Brinkmann, B.1    Meyer, E.2    Junge, A.3
  • 16
    • 34250302615 scopus 로고    scopus 로고
    • Concordance study between the AmpFℓSTR® MiniFiler™ PCR amplification kit and conventional STR typing kits
    • DOI 10.1111/j.1556-4029.2007.00491.x
    • C.R. Hill, M.C. Kline, J.J. Mulero, R.E. Lagace, C.W. Chang, L.K. Hennessy, and J.M. Butler Concordance study between the AmpFlSTR MiniFiler PCR amplification kit and conventional STR typing kits J. Forensic Sci. 52 2007 870 873 (Pubitemid 46918601)
    • (2007) Journal of Forensic Sciences , vol.52 , Issue.4 , pp. 870-873
    • Hill, C.R.1    Kline, M.C.2    Mulero, J.J.3    Lagace, R.E.4    Chang, C.-W.5    Hennessy, L.K.6    Butler, J.M.7
  • 17
    • 0345505266 scopus 로고    scopus 로고
    • Sequence variations in the primer binding regions of the highly polymorphic STR system SE33
    • S. Hering, J. Edelmann, and J. Dressler Sequence variations in the primer binding regions of the highly polymorphic STR system SE33 Int. J. Legal Med. 116 2002 365 367 (Pubitemid 36253785)
    • (2002) International Journal of Legal Medicine , vol.116 , Issue.6 , pp. 365-367
    • Hering, S.1    Edelmann, J.2    Dressler, J.3
  • 18
    • 33645911221 scopus 로고    scopus 로고
    • Apparent exclusion of maternity in a twin chimera carrying only her twin brother's blood cells
    • C. Gunzer, E.M. Dauber, M. Petrasek, B. Glock, D.W.M. Schwartz, and W.R. Mayr Apparent exclusion of maternity in a twin chimera carrying only her twin brother's blood cells Vox Sang. 87 2004 S130
    • (2004) Vox Sang. , vol.87 , pp. 130
    • Gunzer, C.1    Dauber, E.M.2    Petrasek, M.3    Glock, B.4    Schwartz, D.W.M.5    Mayr, W.R.6
  • 19
    • 33747356776 scopus 로고    scopus 로고
    • Mother-child exclusion due to paternal uniparental disomy 6
    • R. Wegener, V. Weirich, E.M. Dauber, and W.R. Mayr Mother-child exclusion due to paternal uniparental disomy 6 Int. J. Legal Med. 120 2006 282 285
    • (2006) Int. J. Legal Med. , vol.120 , pp. 282-285
    • Wegener, R.1    Weirich, V.2    Dauber, E.M.3    Mayr, W.R.4
  • 20
    • 33645929331 scopus 로고    scopus 로고
    • Multiple mutations, covert mutations and false exclusions in paternity casework
    • C. Brenner Multiple mutations, covert mutations and false exclusions in paternity casework Prog. Forensic Genet. 10 2004 112 114
    • (2004) Prog. Forensic Genet. , vol.10 , pp. 112-114
    • Brenner, C.1
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res. 16 1988 1215
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 22
    • 0025923821 scopus 로고
    • Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material
    • P.S. Walsh, D.A. Metzger, and R. Higuchi Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material Biotechniques 10 1991 506 513
    • (1991) Biotechniques , vol.10 , pp. 506-513
    • Walsh, P.S.1    Metzger, D.A.2    Higuchi, R.3
  • 23
    • 33645939575 scopus 로고    scopus 로고
    • A triplex-PCR for SE33, D12S391 and D8S1132 and a singleplex-PCR for D6S389 in a single run
    • DOI 10.1016/j.ics.2005.09.001, PII S0531513105012719, Progress in Forensic Genetics 11 Proceeings of the 21st International ISFG Congress
    • G. Dorner, E.M. Dauber, S. Wenda, B. Glock, and W.R. Mayr A triplex-PCR for SE33, D12S391 and D8S1132 and a singleplex-PCR for D6S389 in a single run Prog. Forensic Genet. 11 2006 418 420 (Pubitemid 43589731)
    • (2006) International Congress Series , vol.1288 , pp. 418-420
    • Dorner, G.1    Dauber, E.M.2    Wenda, S.3    Glock, B.4    Mayr, W.R.5
  • 25
    • 0030071761 scopus 로고    scopus 로고
    • Structural variation in the alleles of a short tandem repeat system at the human alpha fibrinogen locus
    • DOI 10.1007/BF01369788
    • M.D. Barber, B.J. McKeown, and B.H. Parkin Structural variation in the alleles of a short tandem repeat system at the human alpha fibrinogen locus Int. J. Legal Med. 108 1996 180 185 (Pubitemid 26051880)
    • (1996) International Journal of Legal Medicine , vol.108 , Issue.4 , pp. 180-185
    • Barber, M.D.1    McKeown, B.J.2    Parkin, B.H.3
  • 26
    • 0030903395 scopus 로고    scopus 로고
    • Defining microsatellite alleles by genotyping global indigenous human populations and non-human primates
    • L. Jin, P.A. Underhill, M. Buoncristiani, and J.M. Robertson Defining microsatellite alleles by genotyping global indigenous human populations and non-human primates J. Forensic Sci. 42 1997 496 499 (Pubitemid 27195072)
    • (1997) Journal of Forensic Sciences , vol.42 , Issue.3 , pp. 496-499
    • Jin, L.1    Underhill, P.A.2    Buoncristiani, M.3    Robertson, J.M.4
  • 28
    • 0029802714 scopus 로고    scopus 로고
    • Sequence analysis and allelic designation of the two short tandem repeat loci D18S51 and D8S1179
    • DOI 10.1007/BF01355518
    • M.D. Barber, and B.H. Parkin Sequence analysis and allelic designation of the two short tandem repeat loci D18S51 and D8S1179 Int. J. Legal Med. 109 1996 62 65 (Pubitemid 26342838)
    • (1996) International Journal of Legal Medicine , vol.109 , Issue.2 , pp. 62-65
    • Barber, M.D.1    Parkin, B.H.2
  • 29
    • 0026509756 scopus 로고
    • Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2)
    • M.H. Polymeropoulos, D.S. Rath, H. Xiao, and C.R. Merril Tetranucleotide repeat polymorphism at the human beta-actin related pseudogene H-beta-Ac-psi-2 (ACTBP2) Nucleic Acids Res. 20 1992 1432
    • (1992) Nucleic Acids Res. , vol.20 , pp. 1432
    • Polymeropoulos, M.H.1    Rath, D.S.2    Xiao, H.3    Merril, C.R.4
  • 30
    • 0028059525 scopus 로고
    • Different types of structural variation in STRs: HumFES/FPS, HumVWA and HumD21S11
    • DOI 10.1007/BF01224779
    • A. Möller, E. Meyer, and B. Brinkmann Different types of structural variation in STRs: HumFES/FPS, HumVWA and HumD21S11 Int. J. Legal Med. 106 1994 319 323 (Pubitemid 24244630)
    • (1994) International Journal of Legal Medicine , vol.106 , Issue.6 , pp. 319-323
    • Moller, A.1    Meyer, E.2    Brinkmann, B.3
  • 34
    • 0000385266 scopus 로고
    • Isolation of DNA fragments from polyacrylamide gels
    • Cold Spring Harbor Laboratory Press New York pp. 6.46-6.48
    • J. Sambrock, E.F. Fritsch, and T. Maniatis Isolation of DNA fragments from polyacrylamide gels Molecular Cloning: A Laboratory Manual 1989 Cold Spring Harbor Laboratory Press New York pp. 6.46-6.48
    • (1989) Molecular Cloning: A Laboratory Manual
    • Sambrock, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 35
    • 33645933586 scopus 로고    scopus 로고
    • Two apparent mother/child mismatches at the D3S1358 and the SE33 (ACTBP2) locus
    • DOI 10.1016/j.ics.2005.08.046, PII S0531513105012641, Progress in Forensic Genetics 11 Proceeings of the 21st International ISFG Congress
    • E.M. Dauber, W. Parson, B. Glock, and W.R. Mayr Two apparent mother/child mismatches due to mispriming at the D3S1358 and the SE33 (ACTBP2) locus Prog. Forensic Genet. 11 2006 456 458 (Pubitemid 43589614)
    • (2006) International Congress Series , vol.1288 , pp. 456-458
    • Dauber, E.M.1    Parson, W.2    Glock, B.3    Mayr, W.R.4
  • 37
    • 33747357263 scopus 로고    scopus 로고
    • Multistep microsatellite mutation in the maternally transmitted locus D13S317: A case of maternal allele mismatch in the child
    • D. Singh Negi, M. Alam, S.A. Bhavani, and J. Nagaraju Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child Int. J. Legal Med. 120 2006 286 292
    • (2006) Int. J. Legal Med. , vol.120 , pp. 286-292
    • Singh Negi, D.1    Alam, M.2    Bhavani, S.A.3    Nagaraju, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.