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Corresponding author at: Serviço de Genética Forense, Delegação do Centro, Instituto Nacional de Medicina Legal, Largo da Sé Nova, 3000-213 Coimbra, Portugal. Tel.: +351 239 854 230; fax: +351 239 820 549.
Haplotypes of 111 individuals from La Paz have been studied by the analysis of the polymorphisms in mtDNA control region, HV1 and HV2 regions, in order to intend the genetic diversity. The aim was to created a population database, assess genetic interpopulation variability and classify haplogroups. We had identify 99 haplotypes with 125 polymorphic nucleotide positions, 93 haplotypes are unique. Nucleotide and sequence diversity are estimated in 0.016068 ± 0.008186 and 0.9988, respectively. Haplogroup distribution is as follows: 47.75% B; 14.41% C; 6.31% A; 4.5% D; 6.31% A, C, or D; 23.42% undetermined or compound haplogroups. Rate of heteroplasmy is 37.8% in HV1 and 53.2% in HV2.
Andean region can reveal some history of Human migrations and the History of human colonization of the New World. MtDNA is remarkable useful for population genetics by its own characteristics: high copy number per cell, maternal inheritance, high mutation rate of evolution that confers highly polymorphism to the sequences and absence of recombination. The aim of this work was to create a population database of the variability of HV1 and HV2 segments in the population of La Paz, Bolivia; assess the genetic variability in the population; classify the population in to haplogroups; and make a comparison between the studied population and chosen populations from the five continents to discover the genetic variability of the population and infer about their past migrations.
2. Methods
The blood samples were obtained from 111, healthy and none related, individuals regarding the legal consentient in vigour in Bolivia. DNA was extracted using Chelex®100 method [
], respectively. The two segments were sequenced, forward and reverse, using the sequencing chemistry ABI Prism® dRhodamine Terminator Cycle Sequencing Ready Reaction Kit that marks the terminators (ddNTP's). The sequences were analysed in the sequencers: 3100—Avant Genetic Analyser (ABI PRISM®) with the DNA Sequencing Analysis Software™ v.3.7 and the SeqScape® Software v.2.0; and in the 3130—Genetic Analyser (ABI PRISM®) with the ABI DNA Sequencing Analysis Software v.5.2 and the SeqScape® Software v.2.5. Comparison of the HV1 and HV2 regions of the mtDNA were effectuated with the Cambridge Reference Sequence (CRS) [
The HV1 and HV2 sequences were analysed between positions 16024–16390 and 73–340. In this study 99 haplotypes were identified with 125 polymorphic nucleotide positions, 93 haplotypes are unique. Nucleotide and sequence diversity are estimated in 0.016068 ± 0.008186 and 0.9988, respectively. Haplogroup distribution (Fig. 1) is as follows: 47.75% B; 14.41% C; 6.31% A; 4.5% D; 3.60% A, C or D; and 23.42% undetermined or compound haplogroups. Rate of heteroplasmy is 37.83% in HV1 and 53.15% in HV2. It should be notice that the high rate of length heteroplasmy that is found here is similar to others populations from South America and Southwester Asia. The phylogenetic tree obtained by the analysis of the molecular distances between the studied population and chosen populations from the five continents [
M. Carvalho, H. Antunes, M.J. Anjos, L. Andrade, V. Lopes, F. Corte-Real, M.C. Vide, Estudo da Variabilidade do DNA Mitocondrial em Populações Africanas (Guiné e Cabo Verde). VII. Jornadas de Genética Forense, Reunião do Grupo Espanhol e Português da ISFG, Barcelona, 2002.
Due to the high frequency of unique haplotypes, the studied population has a great interpopulation genetic variability. The nucleotide and sequence diversity are high and similar to the ones found in other populations of South America. Native Bolivians exhibited haplotypes from four haplogroups observed in Native Americans. Genetic variability is high, suggesting isolation after an early colonization of the population.
Conflict of interest
None.
References
Walsh P.S.
Metzger D.A.
Higuchi R.
Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material.
M. Carvalho, H. Antunes, M.J. Anjos, L. Andrade, V. Lopes, F. Corte-Real, M.C. Vide, Estudo da Variabilidade do DNA Mitocondrial em Populações Africanas (Guiné e Cabo Verde). VII. Jornadas de Genética Forense, Reunião do Grupo Espanhol e Português da ISFG, Barcelona, 2002.
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