Revista de Biología Tropical ISSN Impreso: 0034-7744 ISSN electrónico: 2215-2075

OAI: https://revistas.ucr.ac.cr/index.php/rbt/oai
The STR polymorphism (AAAAT)n within the intron 1 of the tumor protein 53 (TP53) locus in 17 populations of different ethnic groups of Africa, America, Asia and Europe
PDF

Keywords

population genetics
microsatellite polymorphism
europeans
asiatics
sub-saharan africans
genetica de poblaciones
microsatelites
polimorfismos
europeos
asiaticos
africanos del sub- sahara

How to Cite

Azofeifa, J., Hahn, M., Ruiz, E., Hummerich, L., Morales, A. I., Jiménez, G., & Barrantes, R. (2004). The STR polymorphism (AAAAT)n within the intron 1 of the tumor protein 53 (TP53) locus in 17 populations of different ethnic groups of Africa, America, Asia and Europe. Revista De Biología Tropical, 52(3), 645–657. Retrieved from https://revistas.ucr.ac.cr/index.php/rbt/article/view/15352

Abstract

The STR (AAAAT)n within intron 1 of the TP53 locus was screened in 17 populations from 3 main ethnic groups: Europeans, Asiatics, and Africans, and from the hybrid population of Costa Rica (1968 samples). Three alleles, 126/7 (bp/copies of the repeat), 131/8 and 136/9 were the most prevalent in all populations. Other alleles rarely reached frequencies of 10% or higher. Observed heterozygosities ranged between 0.351 and 0.829. Patterns of diversity fit well with both the geographic origin of the samples and the history of the populations screened. A statistical test suggests that single-step mutational events have been the main mechanism producing new alleles at this locus. Fixation indexes (RST) for this marker showed an effect of population subdivision on divergence only within the Asiatic group; they were insensitive at the level of major ethnic groups as well as within Africans and within Europeans.
PDF

References

Barrantes, R. 1993. Diversidad genética y mezcla racial en los amerindios de Costa Rica y Panamá. Rev. Biol. Trop. 41: 379-384.

Barrantes, R., P.E. Smouse, H.W. Mohrenweiser, H. Gershowitz., J. Azofeifa, T.D.Arias & J.V. Neel. 1990. Microevolution in Lower Central America: genetic characterization of the Chibcha-speaking groups of Costa Rica and Panama, and a consensus taxonomy based on genetic and linguistic affinity. Am. J. Hum. Genet. 46: 63-84.

Borg, I. 1997. Modern Multidimensional Scaling. Theory and applications. New York: Springer.

Brinkmann, B., M. Klintschar, F. Neuhuber, J. Hühne & R. Burkhard. 1998. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am. J. Hum. Genet. 62: 1408-1415.

Cavalli-Sforza, L.L., P. Menozzi & A. Piazza. 1994. The History and Geography of Human Genes. Princeton University, New Jersey.

Constenla-Umaña, A. 1991. Las lenguas del Área Intermedia. Introducción a su estudio areal. Editorial Universidad de Costa Rica, San José, Costa Rica.

Deka, R, P.P. Majumder, M.D. Shriver, D.N. Stivers, Y. Zhong, L.M. Yu, R. Barrantes, S.J. Yin, T. Miki, J. Hundrieser, C.H. Bunker, S.T. McGarvey, S.

Sakallah, R.E. Ferrell & R. Chakraborty. 1996. Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. Genome Res. 6: 142-154.

Deka, R, M.D. Shriver, L.M. Yu, E. Mueller-Heidreich, L. Jin, Y. Zhong, S.T. McGarvey, S.S. Argawal, C.H. Bunker, T. Miki, J. Hundrieser, S.J. Yin, S. Raskin, R. Barrantes, R.E. Ferrel & R. Chakraborty. 1999. Genetic variation at twentythree microsatellite loci in sixteen human populations. J. Genet. 78: 99-121.

Fix, A.G. 1999. Migration and Colonization in Human Microevolution. Cambridge University, Cambridge. Futreal, P.A., J.C. Barret & R.W. Wiseman. 1991. An Alu polymorphism intragenic to the TP53 gene. Nucl. Acids Res. 19: 6977.

Gaspar, P.A., M.H. Hutz, F.M. Salzano & T.A. Weimer. 2001. TP53 polymorphisms and haplotypes in South Amerindians and neo-Brazilians. Ann. Hum. Biol. 28: 184-194.

Gaspar, P.A., M.H. Hutz, F.M. Salzano, K. Hill, A.M. Hurtado, ML. Petz-Erler, L.T. Tsuneto & T.A. Weimer. 2002. Polymorphisms of CYP1A1,

CYP2E1, GSTM1, GSTT1, and TP53 genes in Amerindians. Am. J. Phys. Anthrop. 119: 249-256.

Griffiths, R.C. & S. Tavare. 1994. Simulating probability distributions. Theor. Pop. Biol. 46: 131-159. Guo, S. & E. Thompson. 1992. Performing the exact test of the Hardy-Weinberg proportion for multiple alleles. Biometrics 48: 361-372.

Gusmão, L., M. J. Prata, A. Amorim, F. Silva & I. Bessa. 1997. Characterization of four short tandem repeat loci (THO1, VWA31/A, CD4, and TP53) in Northern Portugal. Hum. Biol. 69: 31-40.

Hahn, M., J. Serth, R. Fislage, H. Wolfes, R. Allhoff, U. Jonas & A. Pingoud. 1993. Polymerase chain reaction detection of a highly polymorphic VNTR segment in intron 1 of the human p53 gene. Clin. Chem. 39: 549-550.

Hahn, M., R. Fislage & A. Pingoud. 1995. Polymorphism of the pentanucleotide repeat d(AAAAT) within intron 1 of the human tumor suppressor gene p53 (17p13.1). Hum. Genet. 95: 471-472.

Hahn, M., J. Wilhelm & A. Pingoud. 2001. Influence of fluorophor dye labels on the migration behavior of polymerase chain reaction-amplified short tandem repeats during denaturing capillary electrophoresis. Electrophoresis 22: 2691-2700.

Harpending, H. & A. Rogers. 2000. Genetic perspectives on human origins and differentiation. Ann. Rev. Genomics Hum. Genet. 1: 361-385.

Hermann, B.G. & A.M. Frischauf. 1987. Isolation of genomic DNA. Methods Enzymol. 152: 180-183.

Hesketh, R. 1997. The Oncogene and Tumor Suppressor Gene Facts Book. Academic, London.

Isobe, M., B.S. Emanuel, D. Givol, M. Oren & C.M. Croce. 1986. Localization of the human p53 tumor antigen to band 17p13. Nature 320: 84-85.

Janus, F., N. Albrechtsen, I. Dornreiter, L. Wiesmüller, F. Grosse & W. Deppert. 1999. The dual role model for p53 in maintaining genomic integrity. Cell. Mol. Life Sci. 55: 12-27.

Lobo-Wiehoff, T. & M. Meléndez-Obando. 1997. Negros y blancos. Todo Mezclado. Editorial de la Universidad de Costa Rica, San José, Costa Rica.

Meléndez, C. & Q. Duncan. 1979. El Negro en Costa Rica. Editorial Costa Rica, San José, Costa Rica.

Miller, S.A., D.D. Dykes & H.F. Polesky. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16: 1215.

Moran, P.A. 1975. Wandering distributions and the electrophoretic profile. Theor. Pop. Biol. 8: 318-330.

Morera, B., R. Marín-Rojas & R. Barrantes. 2001. Análisis de varios marcadores genéticos clásicos en la población de Costa Rica. Rev. Biol. Trop. 49: 1237- 1252.

Morera, B., R. Barrantes & R. Marin-Rojas. 2003. Gene admixture in the Costa Rican population. Ann. Hum. Genet. 67: 71-80.

Nei, M. 1987. Molecular Evolutionary Genetics. Columbia University, New York.

Newson, L. 1987. Indian Survival in Colonial Nicaragua.

Norman, University of Oklahoma. Nielsen, R. 1997. A likelihood approach to population samples of microsatellite alleles. Genetics 146: 711-716.

Ohta, T. & M. Kimura. 1973. A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet. Res. 22: 201-204.

Ridanpää, M., S. Anttila & K. Husgafvel-Pursiainen. 1995. Detection of loss of heterozygosity in the p53 tumor suppressor gene using a PCR-based assay. Path. Res. Pract. 191: 399-402.

Schneider, S., J.M. Kueffer, D. Roesli & L. Excoffier. 1997. Arlequin version 1.1. A software for population genetic data analysis. Genetic and Biometry Laboratory, Department of Anthropology. University of Geneva, Switzerland. (Available at: http://lgb.unige.ch/arlequin/).

Själander, A., R. Birgander, A. Kivelä & G. Beckman. 1995. p53 Polymorphisms and haplotypes in different ethnic groups. Hum. Hered. 45: 144-149.

Själander, A., R. Birgander, N. Saha, L. Beckman & G. Beckman. 1996. p53 polymorphisms and haplotypes show distinct differences between major ethnic groups. Hum. Hered. 46: 41-48.

Slatkin, M. 1995. A measure of population subdivision based on microsatellite allele frequencies. Genetics 139: 457-462.

Wehrhan, C.F. 1975. The evolution of selectively similar electrophoretically detectable alleles in finite natural populations. Genetics 80: 375-394.

Zerylnick, C., A. Torroni, S.L. Sherman & S.T. Warren. 1995. Normal variation at the myotonic dystrophy locus in global human populations. Am. J. Hum. Genet. 56: 123-130.

INTERNET REFERENCES

GDB (TM). 2003. Human Genome Database [database online]. Available from Internet: URL http://www.gdb.org (Downloaded: 11 Aug. 2003;

GDB node: The Netherlands: http://gdb.cmbi.kun.nl/gdb/ ) GDB Data Type: Gene; object name: TP53; Accession ID: GDB: 120445.

OMIM (TM). 2000. Online Mendelian Inheritance in Man. Johns Hopkins University, Baltimore, MD, MIM 191170. Date of last modification 7/24/2003. (Downloaded: http://www.ncbi.nlm.nih.gov/htbinpost/ Omim/dispmim?191170#.).

Comments

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Copyright (c) 2004 Revista de Biología Tropical

Downloads

Download data is not yet available.