Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años

Autosomal and Y chromosome short tandem repeats (STRs) and mitochondrial DNA polymorphisms are the most commonly used molecular tools for determination of kinship. Aim: To report a revision of 1,120 kinship cases (paternity and others) analyzed in our laboratory. Material and methods: Revision of al...

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Autores principales:	Jorquera G,Hugo, Acuña P,Mónica, Cifuentes L,Lucía
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2008
Materias:	DNA Chromosomes Family Paternity
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200008
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spelling	oai:scielo:S0034-988720080002000082008-07-28Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis añosJorquera G,HugoAcuña P,MónicaCifuentes L,Lucía DNA Chromosomes Family Paternity Autosomal and Y chromosome short tandem repeats (STRs) and mitochondrial DNA polymorphisms are the most commonly used molecular tools for determination of kinship. Aim: To report a revision of 1,120 kinship cases (paternity and others) analyzed in our laboratory. Material and methods: Revision of all kinship cases analyzed between years 2001-2006. Autosomal and Y chromosome STRs and mitochondrial DNA polymorphisms were analyzed in DNA extracted from blood samples. Results: Paternity was excluded in 27.2% of cases. This figure did not change significantly along years. Most paternity exclusions were confirmed by the discordance in 5 genetic markers (30.5%), followed by exclusion of 4 and 6 genetic markers (20.3 and 20% respectively). Two studied cases were paternal and maternal exclusions, corresponding to a change of children between two families. In one case, the paternal line was assessed through Y chromosome markers, studying 16 STRs of this chromosome, positively confirming this paternal relationship. Another case was analyzed for maternal line using mitochondrial DNA analysis. In six cases, a genetic marker with a paternal-sibling mutation, was observed. The criteria for the determination of mutation was the finding of only one discordant marker between at ¡east thirteen markers analyzed in each case. Also, an increase or decrease in one unit repeated in tandem (tetranucleotide) between the alleged father and the son was also required. One subject had a double mutation. In this case, paternity was confirmed analyzing thirteen autosomic STRs and five Y-STRs. Conclusions: The authors have acquired great expertise in kinship analysis and had established criteria to solve complex kinship casesinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.2 20082008-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200008es10.4067/S0034-98872008000200008
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	DNA Chromosomes Family Paternity
spellingShingle	DNA Chromosomes Family Paternity Jorquera G,Hugo Acuña P,Mónica Cifuentes L,Lucía Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
description	Autosomal and Y chromosome short tandem repeats (STRs) and mitochondrial DNA polymorphisms are the most commonly used molecular tools for determination of kinship. Aim: To report a revision of 1,120 kinship cases (paternity and others) analyzed in our laboratory. Material and methods: Revision of all kinship cases analyzed between years 2001-2006. Autosomal and Y chromosome STRs and mitochondrial DNA polymorphisms were analyzed in DNA extracted from blood samples. Results: Paternity was excluded in 27.2% of cases. This figure did not change significantly along years. Most paternity exclusions were confirmed by the discordance in 5 genetic markers (30.5%), followed by exclusion of 4 and 6 genetic markers (20.3 and 20% respectively). Two studied cases were paternal and maternal exclusions, corresponding to a change of children between two families. In one case, the paternal line was assessed through Y chromosome markers, studying 16 STRs of this chromosome, positively confirming this paternal relationship. Another case was analyzed for maternal line using mitochondrial DNA analysis. In six cases, a genetic marker with a paternal-sibling mutation, was observed. The criteria for the determination of mutation was the finding of only one discordant marker between at ¡east thirteen markers analyzed in each case. Also, an increase or decrease in one unit repeated in tandem (tetranucleotide) between the alleged father and the son was also required. One subject had a double mutation. In this case, paternity was confirmed analyzing thirteen autosomic STRs and five Y-STRs. Conclusions: The authors have acquired great expertise in kinship analysis and had established criteria to solve complex kinship cases
author	Jorquera G,Hugo Acuña P,Mónica Cifuentes L,Lucía
author_facet	Jorquera G,Hugo Acuña P,Mónica Cifuentes L,Lucía
author_sort	Jorquera G,Hugo
title	Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
title_short	Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
title_full	Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
title_fullStr	Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
title_full_unstemmed	Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años
title_sort	estudios de parentesco mediante marcadores del adn: experiencia en resolución de casos en los últimos seis años
publisher	Sociedad Médica de Santiago
publishDate	2008
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200008
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Estudios de parentesco mediante marcadores del ADN: Experiencia en resolución de casos en los últimos seis años

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