Identification of a base pair substitution at the tetranucleotide tandem repeat locus DHFRP2 (AAAC)n in a worldwide survey |
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Authors: | A. Pérez-Lezaun F. Calafell E. Mateu D. Comas J. Bertranpetit |
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Affiliation: | (1) Laboratori d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Diagonal 645, E-08028 Barcelona, Spain;(2) Institut de Salut Pública, Campus Bellvitge, Universitat de Barcelona, Ctra de la Feixa Llarga s/n, E-08907 L'Hospitalet, Spain |
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Abstract: | An allele heterogeneity in a short tandem repeat at the human dihydrofolate reductase pseudogene (DHFRP2) was detected using non-denaturing gel electrophoresis and ethidium bromide staining. Sequence analysis of the allele, designated 9A, revealed the C to A substitution in the 8th AAAC repeat. A survey of 16 worldwide human populations showed that this mutation was spread through five continents at a relatively high frequency (up top = 0.19 in Europeans). Some statistical parameters of forensic interest were also calculated (h, PD, EC and PIC) for this polymorphism. This type of heterogeneity stresses the complexity of STR variation. |
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Keywords: | STR Mutation DHFRP2 PCR Population genetics |
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