Genotyping inconsistencies and null alleles using AmpFLSTR (R) Identifiler (R) and Powerplex (R) 16 kits

• Type: Article in International Conference Proceedings Book
• Date: 2004

Authors

Amorim, A (Author) FCUP; Alves, C (Author) Other; Pereira, L (Author) Other; Gusmao, L (Author) Other

Conference proceedings International

Title: PROGRESS IN FORENSIC GENETICS 10

Pages: 176-178

20th International Congress of the International-Society-for-Forensic-Genetics

Arcachon, FRANCE, SEP 09-13, 2003

Indexing

ISI Web of Knowledge - 4 Citations

Scopus - 5 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: P-000-DJ2

DOI: 10.1016/s0531-5131(03)01496-1

Abstract (EN): Forensic genetic analyses use more and more commercially available genotyping kits such as AmpFLSTR Identifiler and Powerplex 16. Since they share many STRs, but do not use the same primers, genotyping inconsistencies can arise due to polymorphisms in the primers' annealing sequences. Indeed, if one primer does not match the target sequence, the result will be an allelic dropout and consequently one individual will be classified as homozygous with one kit and heterozygous with the other. Moreover, both can fail to anneal and then null alleles will be only detectable through mother/child or family analyses. We report: (a) the inconsistencies between the above referred kits (a primer concordance study) observed after the extensive genotyping of various population samples (mainly from Portugal and Mozambique) as well as (b) apparent opposite homozygosities in mother/child pairs using both kits. A total of 22 inconsistencies between kits was observed (for D5S818, D8S1179, D16S539, FGA and VWA). Only one mother/child incompatibility was detected out of 769 pairs when using both kits, at D5S818 (12/13), but also attributable to a one-step mutation. It is safe to conclude that the combined use of both kits practically eliminates this source of problem in kinship evaluation and databasing.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3