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Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

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Summary

We have used PCR amplification to analyse the allele frequency, distribution and heterozygosity of 5 microsatellite markers (D1S117, D6S89, D11S35, APOC2, and D21S168), in a sample of 100 unrelated Spanish individuals. The loci tested exhibit wide allelic variability having 7-17 alleles, PIC (polymorphic information content) between 0.79 and 0.86, and heterozygosity between 0.81 and 0.86. D1S117 and D21S168 have unimodal distribution, APOC2 has 4 common alleles which account for 71% of the total variation, D11S35 has a bimodal distribution and D6S89 is trimodal. The allelic distribution observed for each locus is in agreement with slippage and mispairing as the main mechanisms involved in the evolution of microsatellite alleles. Multiplex amplification of loci D6S89 and APOC2 was possible due to their non-overlapping allele sizes. The rapidity with which microsatellites can be analysed, and the accurate determination of alleles, make these markers very powerful tools for genetic typing. The information obtained for loci D1S117, D6S89, D11S35, APOC2, and D21S168, provides a basis for their use for DNA typing and paternity analysis in the Spanish population.

Zusammenfassung

Wir haben die PCR-Amplifikation angewandt, um die Allel-Häufigkeit, die Allel-Verteilung und die Heterozygotie bei 5 Mikrosatelliten-Markern (D1S117, D6S89, D11S25, APOC2 and D21S168) in einer Stichprobe von 100 unverwandten spanischen Personen zu untersuchen. Die untersuchten Loci zeigen eine breite Allel-Variabilität mit Häufigkeiten zwischen 7 und 17 Allelen, einem PIC (polymorpher Informationsgehalt) zwischen 0,79 und 0,86 und einer Heterozygotie-Rate zwischen 0,81 and 0,86. D1S117 und D21S168 haben eine unimodale Verteilung, APOC2 hat vier häufige Allele, welche 71% der gesamten Variation ausmachen, D11S35 hat eine bimodale Verteilung und D6S89 ist trimodal. Die Allel-Verteilung, wie sie für jeden Locus beobachtet wurde, stimmt mit der Annahme überein, daß „Slippage” und Fehlpaarung die Hauptmechanismen sind, welche in der Evolution der Mikrosatelliten-Allele involviert sind. Die Multiplex-Amplifikation der Loci D6S89 und APOC2 war möglich aufgrund ihrer nichtüberlappenden Allel-Größen. Die Geschwindigkeit, mit welcher die Mikrosatelliten analysiert werden können und die genaue Bestimmung der Allele machen diese Marker zu mächtigen Werkzeugen für genetische Typisierung. Die Informationen, welche für die Loci D1S117, D6S89, D11S35, APOC2 und D21S168 erhalten wird, schafft eine Basis für ihre Anwendung bei der DNA-Typisierung und bei der Vaterschaftsanalyse in der spanischen Bevölkerung.

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Authors and Affiliations

  1. Molecular Genetics Department, Center for Medical Genetics I.R.O., Hospital Duran i Reynals, C. de Castelldefels, Km. 2.7, E-08907, Barcelona, Catalunya, Spain

    Juan-José Fuentes, Isabel Banchs, Victor Volpini & Xavier Estivill

  2. Genetics Service, Hospital Clinic i Provincial de Barcelona, Villarroel 170, E-08036, Barcelona, Catalonia, Spain

    Xavier Estivill

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  1. Juan-José Fuentes
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  2. Isabel Banchs
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  3. Victor Volpini
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  4. Xavier Estivill
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Fuentes, JJ., Banchs, I., Volpini, V. et al. Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population. Int J Leg Med 105, 271–277 (1993). https://doi.org/10.1007/BF01370384

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  • DOI: https://doi.org/10.1007/BF01370384

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