Literature DB >> 17696304

Variant alleles, triallelic patterns, and point mutations observed in nuclear short tandem repeat typing of populations in Bosnia and Serbia.

René L M Huel1, Lara Basić, Kamelija Madacki-Todorović, Lejla Smajlović, Izet Eminović, Irfan Berbić, Ana Milos, Thomas J Parsons.   

Abstract

AIM: To present a compendium of off-ladder alleles and other genotyping irregularities relating to rare/unexpected population genetic variation, observed in a large short tandem repeat (STR) database from Bosnia and Serbia.
METHODS: DNA was extracted from blood stain cards relating to reference samples from a population of 32800 individuals from Bosnia and Serbia, and typed using Promega's PowerPlex16 STR kit.
RESULTS: There were 31 distinct off-ladder alleles were observed in 10 of the 15 STR loci amplified from the PowerPlex16 STR kit. Of these 31, 3 have not been previously reported. Furthermore, 16 instances of triallelic patterns were observed in 9 of the 15 loci. Primer binding site mismatches that affected amplification were observed in two loci, D5S818 and D8S1179.
CONCLUSION: Instances of deviations from manufacturer's allelic ladders should be expected and caution taken to properly designate the correct alleles in large DNA databases. Particular care should be taken in kinship matching or paternity cases as incorrect designation of any of these deviations from allelic ladders could lead to false exclusions.

Mesh:

Year:  2007        PMID: 17696304      PMCID: PMC2080559     

Source DB:  PubMed          Journal:  Croat Med J        ISSN: 0353-9504            Impact factor:   1.351


  22 in total

1.  STRBase: a short tandem repeat DNA database for the human identity testing community.

Authors:  C M Ruitberg; D J Reeder; J M Butler
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

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.  Variant alleles on the penta E locus in the PowerPlex 16 kit.

Authors:  Natsuko Mizuno; Kazumasa Sekiguchi; Hajime Sato; Kentaro Kasai
Journal:  J Forensic Sci       Date:  2003-03       Impact factor: 1.832

5.  Somatic mutations at STR loci--a reason for three-allele pattern and mosaicism.

Authors:  B Rolf; P Wiegand; B Brinkmann
Journal:  Forensic Sci Int       Date:  2002-05-23       Impact factor: 2.395

6.  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

7.  Identification and characterization of variant alleles at CODIS STR loci.

Authors:  Catherine Allor; David D Einum; Marco Scarpetta
Journal:  J Forensic Sci       Date:  2005-09       Impact factor: 1.832

8.  A novel diagnostic strategy for trisomy 21 using short tandem repeats.

Authors:  Jing Yan; Jin Wu; Yingbi Li; He Wang; Zhongying Huang; Xueping Zhou; Weijuan Zhang; Yiping Hou
Journal:  Electrophoresis       Date:  2006-02       Impact factor: 3.535

9.  Application of novel "mini-amplicon" STR multiplexes to high volume casework on degraded skeletal remains.

Authors:  Thomas J Parsons; Rene Huel; Jon Davoren; Cheryl Katzmarzyk; Ana Milos; Arijana Selmanović; Lejla Smajlović; Michael D Coble; Adnan Rizvić
Journal:  Forensic Sci Int Genet       Date:  2007-03-13       Impact factor: 4.882

Review 10.  Nondisjunction in trisomy 21: origin and mechanisms.

Authors:  M B Petersen; M Mikkelsen
Journal:  Cytogenet Cell Genet       Date:  2000
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  4 in total

1.  Rare sequence variation in the genome flanking a short tandem repeat locus can lead to a question of "nonmaternity".

Authors:  Anne Deucher; Tsoyu Chiang; Iris Schrijver
Journal:  J Mol Diagn       Date:  2010-03-04       Impact factor: 5.568

2.  Template tailoring: Accurate determination of heterozygous alleles using peptide nucleic acid and dideoxyNTP.

Authors:  Muhammad Akram Tariq; Nader Pourmand
Journal:  Electrophoresis       Date:  2010-04       Impact factor: 3.535

3.  Sequence variation of 22 autosomal STR loci detected by next generation sequencing.

Authors:  Katherine Butler Gettings; Kevin M Kiesler; Seth A Faith; Elizabeth Montano; Christine H Baker; Brian A Young; Richard A Guerrieri; Peter M Vallone
Journal:  Forensic Sci Int Genet       Date:  2015-12-01       Impact factor: 4.882

4.  Characterization of the extra copy of TPOX locus with tri-allelic pattern.

Authors:  Qinrui Yang; Baonian Liu; Chengchen Shao; Yuxiang Zhou; Yining Yao; Yuyin Pan; Kuan Sun; Hongmei Xu; Chengtao Li; Ting Wei; Yueqin Zhou; Qiqun Tang; Jianhui Xie
Journal:  BMC Genet       Date:  2019-02-14       Impact factor: 2.797

  4 in total

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