Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population

The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/o...

Descripción completa

Detalles Bibliográficos
Autores principales: García, M. A., Gusmão, L., Catanesi, Cecilia Inés, Penacino, G. A., Pinto, N.
Formato: Articulo
Lenguaje:Inglés
Publicado: 2017
Materias:
Biología
X-chromosomal markers
Mutation rate
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/146962
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-146962
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Biología
X-chromosomal markers
Mutation rate
spellingShingle Biología
X-chromosomal markers
Mutation rate
García, M. A.
Gusmão, L.
Catanesi, Cecilia Inés
Penacino, G. A.
Pinto, N.
Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
topic_facet Biología
X-chromosomal markers
Mutation rate
description The analysis of X-chromosomal markers can be important in different situations where the application of autosomal and Y- chromosomal STR markers are not sufficient to solve the cases. Currently, the Argentine population lacks a representative database on X-chromosomal markers, regarding allele and/or haplotype frequencies, and mutation rates. The absence of this information represents an important limitation for their routine use in laboratories, preventing the achievement of a quantitative, statistically supported evaluation. In order to estimate mutation rates for the twelve X-chromosomal markers included in the Argus X-12 kit, 345 father-daughter duos were genotyped. The samples were selected from all provinces of Argentina and the biological relationship of paternity was previously confirmed by the analysis of autosomal STR markers for all duos, for which likelihood ratios higher than 106 were achieved. A total of 21 mutations over 4140 allelic transmissions were observed at DXS7132, DXS10134, DXS10079, DXS10146, DXS10101, DXS10103, DXS10074, DXS10148 and DXS10135 loci. The overall X-STRmutation rate observed was 5.1×10−3 (95% CI, 3.1×10−3–7.7 ×10−3) and all the genotypic configurations were explainable by the gain or loss of a single repeat. Finally, it should be noted that the overall mutation rate observed in this work resulted higher in comparison with some other reports, likely due to only father-daughter duos had been considered. Indeed, these findings are in agreement with previous works suggesting higher mutation rates for males, due to the higher number of germline divisions they experience.
format Articulo
Articulo
author García, M. A.
Gusmão, L.
Catanesi, Cecilia Inés
Penacino, G. A.
Pinto, N.
author_facet García, M. A.
Gusmão, L.
Catanesi, Cecilia Inés
Penacino, G. A.
Pinto, N.
author_sort García, M. A.
title Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_short Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_full Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_fullStr Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_full_unstemmed Mutation rate of 12 X-STRs from investigator Argus X-12 kit in Argentine population
title_sort mutation rate of 12 x-strs from investigator argus x-12 kit in argentine population
publishDate 2017
url http://sedici.unlp.edu.ar/handle/10915/146962
work_keys_str_mv AT garciama mutationrateof12xstrsfrominvestigatorargusx12kitinargentinepopulation
AT gusmaol mutationrateof12xstrsfrominvestigatorargusx12kitinargentinepopulation
AT catanesiceciliaines mutationrateof12xstrsfrominvestigatorargusx12kitinargentinepopulation
AT penacinoga mutationrateof12xstrsfrominvestigatorargusx12kitinargentinepopulation
AT pinton mutationrateof12xstrsfrominvestigatorargusx12kitinargentinepopulation
bdutipo_str Repositorios
_version_ 1764820460673957889

Ejemplares similares