Mitochondrial DNA sequences for 118 individuals from northeastern Spain |
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Authors: | M Crespillo J A Luque M Paredes R Fernández E Ramírez J L Valverde |
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Institution: | (1) Sección de Biología. Instituto Nacional de Toxicología. Ministerio de Justicia, Merced 1, 08002 Barcelona, Spain e-mail: biolog@bcn.inaltox.es; Fax: +34-93-3182530, ES |
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Abstract: | A population database was generated from 118 unrelated Caucasoid individuals living in Spain. Sequence polymorphisms of the
mitochondrial DNA (mtDNA) control region, hypervariable regions I and II (HVRI and HVRII) were determined using the polymerase
chain reaction (PCR) and direct sequencing. A total of 102 different sequences were found as defined by 105 variable positions.
The most common sequence occurred six times, and this sequence is also the most frequent in other European populations such
as Austria, Germany and Britain. The mean pair-wise difference for the two HVR regions taken together was 7.74. The study
revealed that transitions made up the majority of the variations (88%), whereas we observed a significantly lower frequency
of transversions (8%). Also one individual in this study was observed with two positions of heteroplasmy at nucleotides 150
(C/T) and 153 (G/A). A statistical estimate of the results for this population showed a genetic diversity of 0.99. The probability
of two random individuals showing identical mtDNA haplotypes is 1.3%. In order to use the mtDNA analysis in forensic casework,
we consider that it is of crucial importance to know the frequency of the different sequences of mtDNA, and this data base
study could be a useful tool to statistically evaluate the results.
Received: 12 July 1999 / Accepted: 11 April 2000 |
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Keywords: | Mitochondrial DNA Polymerase chain reaction Forensic DNA typing Population study Automatic sequencing |
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