Literature DB >> 19876641

False homozygosities at CSF1PO loci revealed by discrepancies between two kits in Chinese population.

Xian-Dun Zhai1, Xiao-Qi Xue, Yao-Nan Mo, Gui-Sei Zhao, Hong-Wei Ai, Yi Ye, Zheng Wang, Yi-Ping Hou.   

Abstract

During the course of paternity test, three samples in two cases were apparently homozygous at the CSF1PO locus using AmpFlSTRs Identifiler PCR Amplification kits, but using the PowerPlexs 16 kit, the three individuals were found to be heterozygous. This puzzling problem was solved by using multiple analytical approaches, including the use of different primer pairs and the characterization of the mutation causing the ''null allele.'' Dropout was caused by a single mutation event in the presumptive binding site of the forward primer. While the frequency of these silent alleles remains low (0.5% in our study), it is suggested that appropriate measures should be taken for database comparisons and that allelic dropout should be further investigated by sequence analysis and be reported to the forensic community.

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Year:  2009        PMID: 19876641     DOI: 10.1007/s00414-009-0381-4

Source DB:  PubMed          Journal:  Int J Legal Med        ISSN: 0937-9827            Impact factor:   2.686


  9 in total

1.  Promega Corporation reveals primer sequences in its testing kits.

Authors:  A Masibay; T J Mozer; C Sprecher
Journal:  J Forensic Sci       Date:  2000-11       Impact factor: 1.832

2.  STR primer concordance study.

Authors:  B Budowle; A Masibay; S J Anderson; C Barna; L Biega; S Brenneke; B L Brown; J Cramer; G A DeGroot; D Douglas; B Duceman; A Eastman; R Giles; J Hamill; D J Haase; D W Janssen; T D Kupferschmid; T Lawton; C Lemire; B Llewellyn; T Moretti; J Neves; C Palaski; S Schueler; J Sgueglia; C Sprecher; C Tomsey; D Yet
Journal:  Forensic Sci Int       Date:  2001-12-15       Impact factor: 2.395

3.  Non-amplification of an allele of the D8S1179 locus due to a point mutation.

Authors:  G R Han; E S Song; J J Hwang
Journal:  Int J Legal Med       Date:  2001-08       Impact factor: 2.686

4.  Variations in primer sequences are the origin of allele drop-out at loci D13S317 and CD4.

Authors:  L Boutrand; B Egyed; S Füredi; N Mommers; G Mertens; A Vandenberghe
Journal:  Int J Legal Med       Date:  2001       Impact factor: 2.686

5.  Identification of a D8S1179 primer binding site mutation and the validation of a primer designed to recover null alleles.

Authors:  Craig Leibelt; Bruce Budowle; Patrick Collins; Yasser Daoudi; Tamyra Moretti; Gary Nunn; Dennis Reeder; Rhonda Roby
Journal:  Forensic Sci Int       Date:  2003-05-05       Impact factor: 2.395

6.  Evaluation of new primers for CSF1PO.

Authors:  K Yoshida; K Sekiguchi; K Kasai; H Sato; S Seta; G F Sensabaugh
Journal:  Int J Legal Med       Date:  1997       Impact factor: 2.686

7.  Detection of a primer-binding site polymorphism for the STR locus D16S539 using the Powerplex 1.1 system and validation of a degenerate primer to correct for the polymorphism.

Authors:  Mark S Nelson; Eleni N Levedakou; Janis R Matthews; Buddy E Early; David A Freeman; Cynthia A Kuhn; Cynthia J Sprecher; Ashima S Amin; Kevin C McElfresh; James W Schumm
Journal:  J Forensic Sci       Date:  2002-03       Impact factor: 1.832

8.  Loss of heterozygosity detected in a short tandem repeat (STR) locus commonly used for human DNA identification.

Authors:  R J Rubocki; K J Duffy; K L Shepard; B J McCue; S J Shepherd; J L Wisecarver
Journal:  J Forensic Sci       Date:  2000-09       Impact factor: 1.832

9.  Primer binding site mutations affecting the typing of STR loci contained within the AMPFlSTR SGM Plus kit.

Authors:  T M Clayton; S M Hill; L A Denton; S K Watson; A J Urquhart
Journal:  Forensic Sci Int       Date:  2004-01-28       Impact factor: 2.395

  9 in total
  3 in total

1.  Development and validation for identity testing of I-DNADuo, a combination of I-DNA1 and a new multiplex system, I-DNA2.

Authors:  Adrian Odriozola; Jose María Aznar; David Celorrio; Maria Luisa Bravo; Juan Jose Builes; Marian Martinez de Pancorbo
Journal:  Int J Legal Med       Date:  2011-06-09       Impact factor: 2.686

2.  Development and validation of I-DNA1: a 15-Loci multiplex system for identity testing.

Authors:  A Odriozola; J M Aznar; D Celorrio; M L Bravo; J J Builes; J F Val-Bernal; Marian M de Pancorbo
Journal:  Int J Legal Med       Date:  2011-01-22       Impact factor: 2.686

3.  Familial identification: population structure and relationship distinguishability.

Authors:  Rori V Rohlfs; Stephanie Malia Fullerton; Bruce S Weir
Journal:  PLoS Genet       Date:  2012-02-09       Impact factor: 5.917

  3 in total

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