Substitution mutation induced migration anomaly of a D10S2325 allele on capillary electrophoresis

• Published in: International journal of legal medicine Vol. 127; no. 2; pp. 363 - 368
• Main Authors: Chen, Peng-Yu, Zhang, Ji, Luo, Hai-Bo, Schneider, Peter M., Hou, Yi-Ping
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.03.2013; Springer Nature B.V
• Subjects: Alleles; Capillary electrophoresis; China; DNA Fingerprinting; Electrophoresis, Capillary; Ethnic Groups - genetics; Female; Forensic Medicine; Genetic Loci; Genetic testing; Genetics; Genetics, Population; Humans; Male; Medical Law; Medicine; Medicine & Public Health; Microsatellite Repeats; Multiplex Polymerase Chain Reaction; Mutation; Polymers; Repetitive Sequences, Nucleic Acid; Short Communication; Software; China; Short tandem repeats; Off-ladder alleles; PCR Amplification Kit; Population genetics; Chinese Han population; Investigator HDplex
• ISSN: 0937-9827; 1437-1596
• DOI: 10.1007/s00414-012-0779-2

Microvariants of short tandem repeat (STR) have been reported for different commercially available multiplex STR systems. Sequence length variations caused by variant mechanisms were the central cause of these abnormal phenomena. Here, we reported a novel electrophoretic mobility of the variant allele 13 of D10S2325 in the Investigator HDplex TM Kit, which was induced by a special sequence structure containing a poly-G tract (ttg ggg g g g) as a result of only one single base substitution in the flanking regions of the core repeat structure. This migration anomaly can pose a potential risk of wrong designation of some off-ladder alleles in STR loci. Furthermore, population genetic data of the Investigator HDplex TM Kit in the Chinese Han population are also reported.