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HUMTH01 allele distribution in four human samples. An interpopulation analysis

  • Published:
International Journal of Anthropology

Abstract

The analysis of STR HUMTH01 in four populations (Galicia, SE Spain, Morocco, Cape Verde) was carried out, with up to 8 alleles being found. The frequencies of these alleles determine values of heterozigosity ranging from 0,826 detected in Cape Verde to 0,778 in Morocco.

A global comparison of world populations shows clear patterns of differentiation among the main human groups, both by way of the analysis of allele distribution profiles and by the application of a Correspondence Analysis. Caucasian populations are mainly characterised by the highest frequencies in allele 9.3, Mongoloids by a very high frequency of allele 9 and Negroids show the highest frequencies for allele 7 and mainly 8. A significant negative correlation (r=−0,916, p<0,001) found in the relationships between alleles 9 and 9.3 seems to suggest the participation of non-random evolutionary forces in the population dynamics of this marker.

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References

  • Alonso S., Castro A., Fernández I., Gómez de Cedrón M., García-Orad A., Meyer E. & Martínez de Pancorbo M., 1995.Population study of 3 STR loci in the Basque Country (northern Spain). International Journal of Legal Medicine, 107:239–245.

    Article  Google Scholar 

  • Alper B., Weigand P. & Brinkmann B., 1995.Frequency profiles of 3 STRs in a Turkish population. International Journal of Legal Medicine, 108:110–112.

    Article  Google Scholar 

  • Bhoopat T., Sriduangkaew S. & Steger H.F., 1997.An investigation of the TH01 locus in a population from northern Thailand. International Journal of Legal Medicine, 110:286–287.

    Article  Google Scholar 

  • Brinkmann B., Sajantila A., Goedde H.W., Matsumoto H., Nishi K. & Wiegand P., 1996.Population genetic comparisons among eight populations using allele frequency and sequence data from three microsatellite loci. European Journal of Human Genetics, 4:175–182.

    Google Scholar 

  • Budowle B., Chakraborty R., Guisti A.M., Eisenberg A.J. & Allen R.C., 1991.Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. American Journal of Human Genetics, 48:137–144.

    Google Scholar 

  • Budowle B., Nhari L.T., Moretti T.R., Kanoyangwa S.B., Masuka E., Defenbaugh D.A. & Smerick J.B., 1977a.Zimbabwe black population data on the six short tandem repeat loci-CSF1PO, TPOX, TH01, D3S1358, VWA and FGA. Forensic Science International, 90:215–221.

    Article  Google Scholar 

  • Budowle B., Smerick J.B., Keys K.M. & Moretti T.R., 1997b.United States population data on the multiplex Short Tandem Repeat loci-HUMTH01, TPOX, and CSF1P0- and the Variable Number Tandem Repeat locus D1S80. Journal of Forensic Science 42:846–849.

    Google Scholar 

  • Crespillo M., Luque J.A., Fernández R., Ramírez E., García P. & Valverde J.L., 1997.Allele frequency distributions of 13 PCR-based systems in a population from North-East Spain. International Journal of Legal Medicine, 110:223–225.

    Article  Google Scholar 

  • D’Aloja E. & Domenici R., 1996.HumTH01 allele frequencies in Italy — Report of the GEF1 collaborative study. In (A. Carracedo, B. Brinkmann and W. Bär, eds.), Advances in Forensic Haemogenetics 6, pp. 692–694. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Dupuy B.M., Berg E.S. & Olaisen B., 1994.Four STRs in 300 Norwegians. In (W. Bär, A. Fiori and U. Rossi, eds.). Advances in Forensic Haemogenetics 5, pp. 539–541. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Edwards A., Civitello A., Hammond H.A. & Caskey C.T. 1991.DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. American Journal of Human Genetics, 49: 746–756.

    Google Scholar 

  • Evett I.W., Gill P.D., Lambert J.A., Oldroyd N., Frazier R., Watson S., Panchal S., Connolly A. & Kimpton C., 1997.Statistical analysis of data for three British ethnic groups from a new STR multiplex. International Journal of Legal Medicine, 110:5–9.

    Google Scholar 

  • Füredi S., Angyal M., Kozma Z., Sétáló J., Woller J. & Pádár Z., 1997.Semi-automatic DNA profiling in a Hungarian Romany population using the STR loci HumVWFA31, HumTHo1, HumTPOX and HumCSF1PO. International Journal of Legal Medicine, 110:184–187.

    Article  Google Scholar 

  • Füredi S., Woller J. & Pádár Z., 1995.Hungarian population data for the STR systems TH01 and VWA. International Journal of Legal Medicine, 108:48–49.

    Article  Google Scholar 

  • Gené M., Borrego N., Hidalgo R., Pinheiro F., Luna M., Corbella J., Moreno P. & Huguet E., 1998a.HUMTH01, HUMVWA31A and 3’ApoB VNTR-PCR loci frequencies studied in Saharan sample population (West Sahara native population). In (B. Olaisen, B. Brinkmann and P.J. Lincoln, eds.) Advances in Forensic Haemogenetics 7, pp. 326–328. Elsevier Science B.V.

  • Gené M., Fuentes M., Huguet E., Piqué E., Bert F., Corella A., Pérez-Pérez A., Corbella J. & Moreno P., 1998b.Quechua Amerindian population characterized by HLA-DQa, YNZ22, 3’APO B, HUMTH01 and HUMVWA31A polymorphisms. Journal of Forensic Science, 43:403–405.

    Google Scholar 

  • Gené M., Huguet E., Moreno P., Sánchez C., Carracedo A. & Corbella J., 1996.Population study of the STRs HUMTH01 (including a new variant) and HUMVWA31A in Catalonia (northeast Spain). International Journal of Legal Medicine, 108:318–320.

    Article  Google Scholar 

  • Gill P., Kimpton C.P. & Sullivan K., 1992.A rapid polymerase chain reaction method for identifying fixed specimens. Electrophoresis, 13:173–175.

    Article  Google Scholar 

  • Guo S.W. & Thompson E.A. 1992.Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics, 48:361–372.

    Article  Google Scholar 

  • Hochmeister M.N., Jung J.M., Budowle B., Borer U.V. & Dirnhofer R., 1994.Swiss population data on three tetrameric short tandem repeat loci-VWA, HUMTH01 and F13A1-derived using multiplex PCR and laser fluorescence detection. International Journal of Legal Medicine, 107:34–36.

    Article  Google Scholar 

  • Holgersson S., Karlsson J.-A., Kihlgren A., Rosén B., Savolainen P. & Gyllensten U., 1994.Fluorescent-based typing of the two short tandem repeat loci HUMTH01 and HUMACTPB2: Reproducibility of size measurements and genetic variation in the Swedish population. Electrophoresis, 15:890–895.

    Article  Google Scholar 

  • Huang N.E., Schumm J. & Budowle B., 1995.Chinese poulation data on three tetrameric short tandem repeat loci-HUMTH01, TPOX and CSF1PO-derived using multiplex PCR and manual typing. Forensic Science International, 71:131–136.

    Article  Google Scholar 

  • Iwasa M., Weigand P., Rand S., Schürenkamp M., Atasoy S. & Brinkmann B., 1997.Genetic variation at five STR loci in subpopulations living in Turkey. International Journal of Legal Medicine, 110:170–172.

    Article  Google Scholar 

  • Jeffreys A.J., Wilson V. & Thein S.L., 1985.Hypervariable “minisatellite” regions in human DNA. Nature, 314:67–73.

    Article  Google Scholar 

  • Klintschar M. & Kubat M., 1995.A study of the short tandem repeat systems HUMVWA and HUMTH01 in an Austrian population sample. International Journal of Legal Medicine, 107:329–330.

    Article  Google Scholar 

  • Klintschar M., Kozma Z., Hammadi N.A., Fatah M.A. & Nöhammer C., 1998.A study on the short tandem repeat systems HumCD4, HumTH01 and HumFIBRA in population samples from Yemen and Egypt. International Journal of Legal Medicine, 111:107–109.

    Article  Google Scholar 

  • Kubat M., Wiegand P. & Brinkmann B., 1995.Population genetic study from the Zagreb area using 3 STR systems. International Journal of Legal Medicine, 107:219–221.

    Article  Google Scholar 

  • Lahermo P., Sajantila A., Sistonen P., Lukka M., Aula P., Peltonen L. & Savontaus M.-L., 1996.The genetic relationship between the Finns and the Finnish Saami (Lapps): Analysis of nuclear DNA and mtDNA. American Journal of Human Genetics, 58:1309–1322.

    Google Scholar 

  • Lee J.Ch.-I., Chen Ch.-H., Tsai L.-Ch., Linacre A. & Chang J.-G., 1997.The screening of 13 short tandem repeat loci in the Chinese population. Forensic Science International, 87:137–144.

    Article  Google Scholar 

  • Litt M. & Luty J.A., 1989.A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. American Journal of Human Genetics, 44:397–401.

    Google Scholar 

  • Lorente M., Lorente J.A., Wilson M.R., Budowle B. & Villanueva E., 1997.Spanish population data on seven loci: D1S80, D17S5, HUMTH01, HUMVWA, ACTBP2, D21S11 and HLA-DQA1. Forensic Science International, 86:163–171.

    Article  Google Scholar 

  • Maniatis T., Fritsch E.F. & Sambrook J., 1982. Molecular cloning: a laboratory manual. Cold Spring Harbor, New York.

  • Martín P., Alonso A., Budowle B., Albarrán C., García O. & Sancho M., 1996.Spanish population data on 13 PCR-based systems. In (A. Carracedo, B. Brinkmann and W. Bär, eds.). Advances in Forensic Haemogenetics 6, pp 578–580. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Mertens G., Mommers N., Heylen H., Gielis M., Muylle L. & Vandenberghe A., 1997.Allele frequencies of nine STR systems in the Flemish population and application in parentage testing. International Journal of Legal Medicine, 110:177–180.

    Article  Google Scholar 

  • Nagai A., Yamada S., Watanabe Y., Bunai Y. & Ohya I., 1996.Analysis of the STR loci HUMF13A01, HUMFXIIIB, HUMLIPOL, HUMTH01, HUMTPOX and HUMVWFA31 in a Japanese population. International Journal of Legal Medicine, 109:34–36.

    Article  Google Scholar 

  • Nakamura Y., Leppert M., O’Connell P., Wolff R., Holm T., Culver M., Martin C., Fujimoto E., Hoff M., Kumlin E. & White R., 1987.Variable number of tandem repeat (VNTR) markers for human gene mapping. Science, 235:1616–1622.

    Google Scholar 

  • Nei M., 1978.Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics, 89:583–590.

    Google Scholar 

  • Nellemann L.J., Mæller A. & Morling N., 1994.PCR typing of DNA fragments of the short tandem repeat (STR) system HUMTH01 in Danes and Greenland Eskimos. Forensic Science International, 68:45–51.

    Article  Google Scholar 

  • Pawlowski R., Welz A., Maciejewska A. & Paszkowska R., 1996.Population studies of two AMPFLPs and two STRs systems in a North Polish population. In (A. Carracedo, B. Brinkmann and W. Bär, eds.), Advances in Forensic Haemogenetics 6, pp 592–594. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Pfitzinger H., Ludes B., Kintz P., Tracqui A. & Mangin P., 1995.French Caucasian population data for HUMTH01 and HUMFES/FPS Short Tandem Repeat (STR) systems. Journal of Forensic Science, 40:270–274.

    Google Scholar 

  • Pinheiro F., Pontes L., Gené M., Huguet E., Pinto da Costa J. & Moreno P., 1997.Population study of the HUMTH01, HUMVWA31A, HUMF13A1 and HUMFES/FPS STR polymorphisms in the North of Portugal. Journal of Forensic Science, 42:121–124.

    Google Scholar 

  • Prata M.J., Amorim A., Gusmão L. & Trovoada M.J., 1996.Population genetics of the STRs TPO, TH01 and VWFA31/A in S. Tomé e Príncipe. In (A. Carracedo, B. Brinkmann and W. Bär, eds.), Advances in Forensic Haemogenetics 6, pp 604–606. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Puers C., Hammond H.A., Jin L., Caskey C.T. & Schumm J.W., 1993.Identification of repeat sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01 [AATG] n and reassignment of alleles in population analysis by using a locus-specific allelic ladder. American Journal of Human Genetics, 53:953–958.

    Google Scholar 

  • Raymond M. & Rousset F., 1995a.GENEPOP (Version 1.2): Population genetics software for exact tests and ecumenicism. Journal of Heredity, 86:248–249.

    Google Scholar 

  • Raymond M. & Rousset F., 1995b.An exact test for population differentiation. Evolution, 49: 1280–1283.

    Article  Google Scholar 

  • Rohlf F.J. & Slice D.E., 1992.NTSYS-pc 1.70 Stony Brook, NY: Applied Biostatistics, Inc.

    Google Scholar 

  • Rostedt I., Lalu K., Lukka M. & Sajantila A., 1996.Genotyping of five short tandem repeat loci via triplex and duplex PCR. Forensic Science International, 82:217–226.

    Article  Google Scholar 

  • Savill M.G. & Sensabaugh G.J., 1994.Studies on the HUMFAPB and HUMTH01 polymorphisms. In (W. Bär, A. Fiori and U. Rossi, eds.). Advances in Forensic Haemogenetics 5, pp 575–577. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Singer-Sam J., Tanguay R.L. & Riggs A.D., 1989.Use of Chelex to improve the PCR signal from a small number of cells. Amplifications, 3:11.

    Google Scholar 

  • Sokal R.R. & Rohlf F.J., 1969.Biometry. Freeman and Company, San Francisco.

    Google Scholar 

  • Souto L., Vieira D.N., Corte-Real F. & Vide M.C., 1996.Allele frequencies in 4 STRs in a population of Portugal (Central Area). In (A. Carracedo, B. Brinkmann and W. Bär, eds.). Advances in Forensic Haemogenetics 6, pp. 652–654. Springer-Verlag, Berlin Heidelberg, NJ.

    Google Scholar 

  • Van Oorschot R.A.H., Gutowski S.J. & Robinson S.L., 1994.HUMTH01: amplification, species specificity, population genetics and forensic applications. International Journal of Legal Medicine, 107:121–126.

    Article  Google Scholar 

  • Weber JL & May PE. 1989. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. American Journal of Human Genetics, 44:388–396.

    Google Scholar 

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Authors and Affiliations

  1. Department of Anthropology, Faculty of Biology, University of Santiago de Compostela, Santiago, Spain

    Luis J. R., Dios S., Carril J. C. & Caeiro B.

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  1. Luis J. R.
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  2. Dios S.
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  3. Carril J. C.
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  4. Caeiro B.
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Luis, J.R., Dios, S., Carril, J.C. et al. HUMTH01 allele distribution in four human samples. An interpopulation analysis. Int. J. Anthropol. 16, 249–261 (2001). https://doi.org/10.1007/BF02447234

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