Study of mutations in Y-STRs
Coordinators and contacts:
Nádia Pinto, IPATIMUP/i3S, Porto, Portugal: firstname.lastname@example.org
António Amorim, FCUP, IPATIMUP/i3S, Porto, Portugal: email@example.com
Leonor Gusmão, UERJ, Rio de Janeiro, Brazil: firstname.lastname@example.org
As haploid genetic transmission is the only one allowing the unambiguous identification of parental and filial alleles, this study on a set of Y STR markers in father-son duos, will allow the correlation between mutation, the sequence of the repetitive motif of the marker, and the length of the parental allele in various populations.
The data will concern markers of the kits PowerPlex® Y23 System, Promega, or Yfiler™ Plus PCR Amplification Kit, ThermoFisher Scientific, analyzed in father-son duos in cases where the biological relationship is ensured by the analysis of autosomal markers.
Statistical inferences correlating the rate and type of mutation with the sequence of the repetitive motif, and the length of the parental in different populations will be assessed.
• Expression of interest to participate deadline: November 30, 2019, by email to the coordination.
• Submission of genetic information: until July 31, 2020.
• Promega supports this working group and will offer a ~50% discount on the purchase of PowerPlex Y23 kit to the participating laboratories.
• ThermoFisher Scientific supports this working group and will offer a 45% discount on the purchase of Yfiler™ Plus PCR Amplification Kit, to participating laboratories.
• Participating laboratories will be required to submit until May 1, 2020, the certificates from the GHEP-ISFG (or other, SAGF e.g.) quality control exercise of the past few years (2017-2019), showing correct results for Y chromosomal STRs.
• Electrophoregrams and/or .fsa files of all runs should be saved as they may be needed to clarify questions that may arise.
• To the publication of results, a limit of one author per each 100 duos of genotyped individuals is established, for a maximum of two authors per laboratory.
• For publication, besides the organizers, authors will be ranked considering the number of analysed trios (by author) and, for laboratories with the same number, by alphabetical order.