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COL1A2 gene deletion polymorphism in an Italian and an Ivorian populations

  • Human Genetics
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Abstract

The COL1A2 gene is one of the two genes encoding for the polypeptides of type I collagen, that represent the major constituent of skin, bone, tendons, ligaments, blood vessels, dentin, and many interstitial tissues. The COL1A2 gene deletion polymorphism has been considered as an informative anthropological marker for describing geographically distinct human populations. Aim of the present study was to investigate the genetic variability at COL1A2 locus in two populations, one belonging to Ouangolodougou (n = 133), a village placed in Northern Ivory Coast, and one belonging to Lecco (n = 70), a village placed in a Northern Italy region called Lombardy. For each sampled population no data are available in literature. We reported, for the first time, the presence of the deleted allele among Ivorians (0.06), confirming the low deletion frequency of this polymorphism found in Sub Saharan Africa by other authors. For Italians, frequency analysis of this gene polymorphism (0.28 for the deleted allele) did not show any significant level of differentiation with respect to other Italian and European populations.

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References

  1. Retief, E., Parker, M.I., and Retief, A.E., Regional Chromosome Mapping Of Human Collagen Genes Alpha 2(I) and Alpha 1(I) (COLIA2 and COLIA1), Hum. Genet., 1985, vol. 69, pp. 304–308.

    Article  PubMed  CAS  Google Scholar 

  2. Pepe, G., Rickards, O., Bue, C., et al., EcoRI, RsaI, and MspI RFLPs on the COL1A2 Gene (Type I Collagen) in the Cayapa, a Native American Population of Ecuador, Hum. Biol., 1994, vol. 66, pp. 979–989.

    PubMed  CAS  Google Scholar 

  3. Mitchell, R.J. Howlett, S., White, et al., Deletion Polymorphism in the Human COL1A2 Gene: Genetic Evidence of a non-African Population Whose Descendants Spread to All Continents, Hum. Biol., 1999, vol. 71, pp. 901–914.

    PubMed  CAS  Google Scholar 

  4. Sykes, B., Ogilvie, D., Wordsworth, P., et al., Consistent Linkage of Dominantly Inherited Osteogenesis Imperfecta to the Type I Collagen Loci: COL1A1 and COL1A2, Am. J. Hum. Genet., 1990, vol. 46, pp. 293–307.

    PubMed  CAS  Google Scholar 

  5. Grobler-Rabie, A.F., Wallis, G., Brebner, D.K., et al., Detection of a High Frequency RsaI Polymorphism in the Human Pro-α2(I) Collagen Gene Which Is Linked to an Autosomal Dominant from of Osteogenesis Imperfecta, EMBO J., 1985, vol. 4, pp. 1745–1748.

    PubMed  CAS  Google Scholar 

  6. Watson, C.J. and Dalgleish, R., PCR Detection of a 38 bp Length Variant in the COL1A2 Gene, Nucleic. Acids Res., 1990, vol. 18, p. 5925.

    Article  PubMed  CAS  Google Scholar 

  7. Pepe, G., Rickards, O., Jodice, C., et al., Allele and Haplotype Frequency Distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among Various Human Populations, Hum. Biol., 1995, vol. 67, pp. 905–920.

    PubMed  CAS  Google Scholar 

  8. Rickard, O., Martinez-Labarga, C., Trucchi, E., et al., Restriction Fragment Length Polymorphisms of Type I Collagen Locus 2 (COL1A2) in Two Communities of African Ancestry and Other Mixed Populations of Northwestern Ecuador, Hum. Biol., 2005, vol. 77, pp. 115–123.

    Article  Google Scholar 

  9. Ivorian National Institute of Statistics, http://www.ins.ci

  10. Bowcock, A., Herbert, J., Mountain, J., et al., Study of an Additional 58 DNA Markers in Five Human Populations from Four Continents, Gene Geography, 1991, vol. 1, pp. 47–64.

    Google Scholar 

  11. De Stefano, G.F., Martinez-Labarga, C., Casalotti, R., et al., Analysis of Three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia, Ann. Hum. Biol., 2002, vol. 29, no. 4, pp. 432–441.

    Article  PubMed  Google Scholar 

  12. Martinez-Labarga, C., Lelli, R., Tarsi, T., et al., Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig Enhancer Genes in the Tuaregs From Libya, Ann. Hum. Biol., 2007, vol. 34, no. 4, pp. 425–436.

    Article  PubMed  Google Scholar 

  13. Pepe, G., Muglia, M., Brancati, C., and Modiano, G., Studies on Four Restriction Fragment Length Polymorphisms of the Type I Collagen Genes in Two Italian Populations, Hum. Heredity, 1990, vol. 40, no. 6 pp. 368–380.

    Article  PubMed  CAS  Google Scholar 

  14. Walsh, P.S., Metzger, D.A., and Higuchi, R., Chelex 100 as a Medium for Simple Extraction of DNA for PCR-Based from Forensic Material, Biotechniques, 1991, vol. 10, pp. 506–513.

    PubMed  CAS  Google Scholar 

  15. Raymond, M. and Rousset, F., GENEPOP (3.4): Population Genetics Software for Exact Tests and Ecumenicism, J. Heredity, 1995, vol. 86, pp. 248–249.

    Google Scholar 

  16. Babalini, C., Tarsi, T., Martinez-Labarga, C., et al., COL1A2 (Type I Collagen) Polymorphisms in the Colorado Indians of Ecuador, Ann. Hum. Biol., 2005, vol. 32, no. 5, pp. 666–678.

    Article  PubMed  CAS  Google Scholar 

  17. Mottes, M., Cugola, L., and Pignatti, P.F., Haplotype Frequencies of the Collagen Type I Genes in the Italian Population, Hum. Genet., 1989, vol. 83, pp. 369–372.

    Article  PubMed  CAS  Google Scholar 

  18. Sykes, B., Ogilvie, D., Wordsworth, P., et al., Osteogenesis Imperfecta Is Linked to Both Type I Collagen Structural Genes, Lancet, 1986, vol. 7, pp. 69–72.

    Article  Google Scholar 

  19. Baker, R., Lynch, J., Ferguson, L., et al., PCR Detection of Five Restriction Site Dimorphisms at the Type I Collagen Loci COL1A1 and COL1A2, Nucleic Acids Res., 1991, vol. 19, p. 4315.

    Article  PubMed  CAS  Google Scholar 

  20. Børresen, A.L., Møller, P., and Berg, K., Linkage Disequilibrium Analysis and Restriction Mapping of Four RFLPs at the pro α2(I) Collagen Locus: Lack of Correlation between Linkage Disequilibrium and Physical Distance, Hum. Genet., 1988, vol. 78, pp. 216–221.

    Article  PubMed  Google Scholar 

  21. Santovito, A., Bulgarello, C., Caravatti, G.A., et al., ACE and LRPAP1 Insertion-Deletion Polymorphisms in a Northern Ivory Coast Population, Hum. Biol., 2007, vol. 79, no. 6.

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Correspondence to A. Santovito.

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Santovito, A., Burgarello, C., Cervella, P. et al. COL1A2 gene deletion polymorphism in an Italian and an Ivorian populations. Russ J Genet 45, 857–860 (2009). https://doi.org/10.1134/S102279540907014X

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