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Mitochondrial DNA Control Region Polymorphism in the Population of Alagoas State, North-Eastern Brazil

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Abstract:

The sequences of the two hypervariable (HV) segments of the mitochondrial DNA (mtDNA) control region were determined in 167 randomly selected, unrelated individuals living in the state of Alagoas, north-eastern Brazil. One hundred and forty-five different haplotypes, associated with 139 variable positions, were determined. More than 95% of the mtDNA sequences could be allocated to specific mtDNA haplogroups according to the mutational motifs. Length heteroplasmy in the C-stretch HV1 and HV2 regions was observed in 22 and 11%, respectively, of the population sample. The genetic diversity was estimated to be 0.9975 and the probability of two random individuals presenting identical mtDNA haplotypes was 0.0084. The most frequent haplotype was shared by six individuals. All sequences showed high-quality values and phantom mutations were not detected. The diversity revealed in the mitochondrial control region indicates the importance of this locus for forensic casework and population studies within Alagoas, Brazil.
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Keywords: Alagoas state; Brazil; DNA typing; forensic science; haplogroups; haplotypes; hypervariable regions; mitochondrial DNA; polymorphism

Document Type: Research Article

Affiliations: 1: Laboratório de DNA Forense, Instituto de Ciências Biológicas e da Saúde, Universidade Federal de Alagoas, Av. Aristeu de Andrade 452, Farol, CEP 57021-090, Maceió, AL, Brazil. 2: Departamento de Genética, Universidade Federal de Pernambuco, Av. Prof. Moraes Rêgo 1235, Cidade Universitária, CEP 50670-901, Recife, PE, Brazil.

Publication date: January 1, 2008

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