Universität zu Köln

Gomes, Iva ORCID: 0000-0002-1593-301X, Brehm, Antonio, Gusmao, Leonor ORCID: 0000-0003-0432-6481 and Schneider, Peter M. ORCID: 0000-0003-0744-2349 (2016). New sequence variants detected at DXS10148, DXS10074 and DXS10134 loci. Forensic Sci. Int.-Genet., 20. S. 112 - 117. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

Full text not available from this repository.

Abstract

A great amount of population and forensic genetic data are available for X-STRs supporting the need for having a common and accurate nomenclature among laboratories allowing for better communication, data exchange, and data comparison. DXS10148, DXS10074 and DXS10134 are commonly used X-STRs particularly due to their inclusion in the commercial kit Investigator Argus X-12 (Qiagen). Samples from West Africa and Iraq were sequenced for all three X-STRs allowing the detection of new DNA sequence variants. At DXS10148, variation was detected at four bases downstream from the flanking region from the repeat motif. The sequence AAGG-AAAG has been detected for the first time as a varying (AAGG-AAAG)(1-3) motif, in the present work. One additional string when compared to the common one (AAGG-AAAG)(2) adds eight bases to the fragment size of the tetranucleotide STR. This means that 2 repeats are added in these cases to the fragment size of the allele, while the presence of only one copy will reduce the expected allele size by 2 repeats. At DXS10074 two varying stretches consisting of AC and AG dinucleotide repeats were observed in the upstream flanking region, six bases from the main repeat core that also influence the expected allele size. DXS10134 revealed a simpler nomenclature in the Guinea-Bissau sample set when compared to the previously described allele nomenclature. This detected new hidden variation also has impact on the actual allele nomenclature at this locus as it contributes to a new class of short alleles so far undetected in other studies. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Gomes, Iva UNSPECIFIED orcid.org/0000-0002-1593-301X UNSPECIFIED Brehm, Antonio UNSPECIFIED UNSPECIFIED UNSPECIFIED Gusmao, Leonor UNSPECIFIED orcid.org/0000-0003-0432-6481 UNSPECIFIED Schneider, Peter M. UNSPECIFIED orcid.org/0000-0003-0744-2349 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-291114
DOI:	10.1016/j.fsigen.2015.10.005
Journal or Publication Title:	Forensic Sci. Int.-Genet.
Volume:	20
Page Range:	S. 112 - 117
Date:	2016
Publisher:	ELSEVIER IRELAND LTD
Place of Publication:	CLARE
ISSN:	1878-0326
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language FORENSIC-GENETICS; DNA COMMISSION; STRS; RECOMMENDATIONS; NOMENCLATURE; STANDARDS; REGION Multiple languages Genetics & Heredity; Medicine, Legal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/29111