Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set

J. Carlos Alvarez; Diana L.E. Johnson; Jose A. Lorente; Esther Martinez-espin; Luis J. Martinez-Gonzalez; Marc Allard; Mark R. Wilson; Bruce Budowle

doi:10.1016/j.legalmed.2007.05.005

Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set

J. Carlos Alvarez, Diana L.E. Johnson, Jose A. Lorente, Esther Martinez-espin, Luis J. Martinez-Gonzalez, Marc Allard, Mark R. Wilson, Bruce Budowle

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Abstract

Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n = 312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies.

Original language	English
Pages (from-to)	293-304
Number of pages	12
Journal	Legal Medicine
Volume	9
Issue number	6
DOIs	https://doi.org/10.1016/j.legalmed.2007.05.005
State	Published - Nov 2007

Keywords

Control region
Haplogroup designation
Haplotype
Mitochondrial DNA
Spanish

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10.1016/j.legalmed.2007.05.005

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title = "Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set",

abstract = "Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n = 312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies.",

keywords = "Control region, Haplogroup designation, Haplotype, Mitochondrial DNA, Spanish",

author = "Alvarez, {J. Carlos} and Johnson, {Diana L.E.} and Lorente, {Jose A.} and Esther Martinez-espin and Martinez-Gonzalez, {Luis J.} and Marc Allard and Wilson, {Mark R.} and Bruce Budowle",

note = "Funding Information: This research was supported in part by an appointment to the Visiting Scientists Program to MWA at the Federal Bureau of Investigation, Counterterrorism Forensic Science Research Unit administered by the Research Participation Program of the Oak Ridge Institute for Science and Education through an interagency agreement between the US Department of Energy and the FBI-CTFSRU. Names of commercial manufacturers are provided for identification only, and inclusion does not imply endorsement by the Federal Bureau of Investigation. ",

year = "2007",

month = nov,

doi = "10.1016/j.legalmed.2007.05.005",

language = "English",

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pages = "293--304",

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AU - Alvarez, J. Carlos

AU - Johnson, Diana L.E.

AU - Lorente, Jose A.

AU - Martinez-espin, Esther

AU - Martinez-Gonzalez, Luis J.

AU - Allard, Marc

AU - Wilson, Mark R.

AU - Budowle, Bruce

N1 - Funding Information: This research was supported in part by an appointment to the Visiting Scientists Program to MWA at the Federal Bureau of Investigation, Counterterrorism Forensic Science Research Unit administered by the Research Participation Program of the Oak Ridge Institute for Science and Education through an interagency agreement between the US Department of Energy and the FBI-CTFSRU. Names of commercial manufacturers are provided for identification only, and inclusion does not imply endorsement by the Federal Bureau of Investigation.

PY - 2007/11

Y1 - 2007/11

N2 - Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n = 312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies.

AB - Population data on the hypervariable regions of the mitochondrial DNA (mtDNA) genome are used to convey the relative rarity of mtDNA profiles obtained from evidence samples and of profiles used to identify missing persons. In this study, mtDNA profiles of Spanish individuals (n = 312) were analyzed to describe haplogroup distributions and to determine relevant single nucleotide polymorphisms (SNPs) of those haplogroups. All nine common European haplogroups were observed in the sample, and these were divided into subgroups when possible. Haplogroup H was the most common haplogroup. The haplogroups U, J, T, and V were the next most frequent groups, each occurring at a frequency of 6.4% or greater. In addition, African and Asian sequences were present though rare in the samples. The data were compared with and found to be similar to other published data sets. There were 109 SNPs observed in the data set, including 10 positions not previously reported. The most variable sites are consistent with other studies.

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KW - Haplogroup designation

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Characterization of human control region sequences for Spanish individuals in a forensic mtDNA data set

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Keywords

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