X-chromosomal STRs: Metapopulations and mutation rates

The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10<sup>-4</sup> (DXS7133) and 1.07x10<sup>-2</sup> (DXS10135), being 5.2 times higher in the male (4.16 ×10<sup>-3</sup>) than in the female (8.01 ×10<sup>-4</sup>) germline.

Authors

Institutions

Publication Details

Journal
Forensic Science International Genetics
Published
2025-01-27
DOI
https://doi.org/10.1016/j.fsigen.2025.103232
Citations
3
Primary Topic
Forensic and Genetic Research
Type
article
Field-Weighted Citation Impact
5.45

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

X-chromosomal STRs: Metapopulations and mutation rates

M. Carvalho, Nádia Pinto, Gabriela Narcizo de Lima, Marian M. de Pancorbo et al.
3 citations
Forensic Science International Genetics
Forensic and Genetic Research
5.45
article

X-chromosomal STRs: Metapopulations and mutation rates

M. Carvalho, Nádia Pinto, Gabriela Narcizo de Lima, Marian M. de Pancorbo, Regina Maria Barretto Cicarelli, Carlos Vullo, Marisa Faustino, António Brehm, Leonor Gusmão, Carmen Tomàs, Elizeu Fagundes de Carvalho, A. Ibarra, Livia Borjas, I. Yurrebaso, Eileen Riego, Chiara Turchi, Julieta Henao, Ulises Toscanini, Gabriela Berardi, Cristina Arévalo, Sofia Antão-Sousa, Sidney Emanuel Batista dos Santos, A. Hernández, J.J. Builes, Irati Miguel Manterola, Cı́ntia Alves, G. Plaza, Cecilia Bobillo, Dário Grattapaglia, Rashed Alghafri, Valerio Onofri, Mauro de Freitas Rebelo, Aluisio Trindade-Filho, Claudia Barletta‐Carrillo, Eugênio Nascimento, Daniel Corach, M V Diederiche, L. Mendoza, Laura Cainé, M.J. Porto, Y. Posada, Iva Gomes, Alejandro Mosquera, Amelia Rodríguez, Marco Fondi, Paula Sánchez‐Diz, A. Contreras, Filipa Simão, Danilo Faustino Braganholi, António Amorim, L. Baldassarri, D. Aguirre, M.A. Abovich, Claudia Marrero, Laura Catelli, Vânia Pereira, J. Pestano, Rodrigo Rodenbusch, A. Gaviria, Joyce Aparecida Martins, M.G. García, O. García, José M. Fernández, Patricia M. Domingues, Denilce R. Sumita, Luz Myriam Fuentes, Marta Espinoza
article en
3 citations

Abstract

The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10<sup>-4</sup> (DXS7133) and 1.07x10<sup>-2</sup> (DXS10135), being 5.2 times higher in the male (4.16 ×10<sup>-3</sup>) than in the female (8.01 ×10<sup>-4</sup>) germline.

Forensic Science International GeneticsVol. 76
Marche Polytechnic University (IT), Universidade do Porto (PT), National University of San Marcos (PE), Universidade de Santiago de Compostela (ES), Universidad de Buenos Aires (AR), Universidad de Costa Rica (CR), Universidad de Antioquia (CO), Universidade do Estado do Rio de Janeiro (BR), Euskadiko Parke Teknologikoa (ES), IPO Porto (PT), Argentine Antarctic Institute (AR), Universidade Federal do Pará (BR), Federal Police of Brazil (BR)
Fundação de Amparo à Pesquisa do Estado de São Paulo, Ministério da Ciência, Tecnologia e Inovação, Conselho Nacional de Desenvolvimento Científico e Tecnológico, Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro, Fundação para a Ciência e a Tecnologia, European Regional Development Fund
Openalex Percentile: Top 6%
Forensic and Genetic Research
5.45
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.