P1: Estimation of bi-allelic mutation rates at Y-STRs – Call for a Collaborative Project


Nádia Pinto1, 2, 3, Leonor Gusmão4, António Amorim1,2,5

  1. Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
  2. Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto, Portugal
  3. Center of Mathematics of the University of Porto, Porto, Portugal
  4. Laboratório de Diagnóstico por DNA (LDD), Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro, Brazil
  5. Faculdade de Ciências, Universidade do Porto, Porto, Portugal


Estimating (overall) mutation rates through to the simple proportioning of cases showing Mendelian incompatibilities is a formally sound and statistically robust method only in the case of Y-chromosomal transmission, where it is unambiguous which allele at the father originated which allele at the son. Several works were already published presenting estimates for Y-allelic mutation rates, but few present the data in a format which would allow the accurate inclusion of the relevant parameters in the statistical calculations, as already highlighted at N. Pinto, L. Gusmão, A. Amorim, Mutation and mutation rates at Y chromosome specific Short tandem Repeat Polymorphisms (STRs): A reappraisal, Forensic Sci. Int. Genet. 9 (2014), 20-24. Indeed, from a formal point of view, the mutational parameter required in a likelihood ratio is bi-allelic specific (i.e. the pertinent mutation rate is the allelic transition observed), for whose estimation the absolute number of “non-mutated” transitions is also required. Thus, the primer goal of this call is to estimate bi-allelic mutations rates by asking collaboration from authors who have already developed work for estimating Y-STRs mutation rates in a Y-haplotypic framework. Moreover, large datasets in a haplotype framework will allow also to determine if: (a) the haplotype background influences the (bi-allelic) mutation rates, and (b) the probability of occurrence of a mutation at a locus influences the probability of occurrence of other mutations at other loci, in the same gametogenesis.

Requested data and format

We ask for collaborations which allow us to collect Y-haplotypic information in a large scale, as complete as possible, exclusively from father-son duos and including all tested transmissions (both mutated and non-mutated). If possible, information such as father’s age at the gametogenesis and a brief characterization of the population (preferably using YHRD nomenclature) should be provided. Please do not include ‘repeated fathers’, i.e. one father and more than one son. The requested format is a simple Excel worksheet as follows:

Excel worksheet


We are asking for contributions until April 29th, 2016.


N. Pinto (preferential), L. Gusmão or A. Amorim

* See FAQ/Glossary (http://yhrd.org/pages/faq) for further explanations of abbriviated terms used here