Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique (original) (raw)

Abstract

A polymorphic microsatellite (Y-27H39) based on a (GATA) n repeat was recently discovered on the short arm of the human Y chromosome. We have used a simple technique based on polymerase chain reaction amplification and native polyacrylamide gel electrophoresis followed by highly sensitive silver staining to study the inheritance, the genetic stability and the allele frequency distribution of this polymorphism in the Brazilian population. We have analyzed 100 randomly chosen Caucasian Brazilian father-son pairs with established paternity. Five alleles, four base-pairs apart, were easily distinguishable. Their frequencies were: A (186 bp), 0.19; B (190 bp), 0.49; C (194 bp), 0.24; D (198 bp), 0.07; E (202 bp), 0.01. In all father-son pairs, there was complete allelic concordance. From these data, the probability of discrimination for forensic cases and the average probability of exclusion for paternity cases were both calculated to be 0.66.

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References

• Arnemann J, Jakubiczka S, Schmidtke J, Schafer R, Epplen JT (1986) Clustered GATA repeats (Bkm sequences) on the human Y chromosome. Hum Genet 73:301–303
  Google Scholar
• Chakraborty R (1985) Paternity testing with genetics markers: are Ylinked genes more efficient than autosomal ones? Am J Med Genet 21:29–305
  Google Scholar
• Herring AJ, Inglis NF, Ojeh CK, Snodgrasse DR, Rumjes JD (1982) Rapid diagnosis of rotavirus infection by direct detection of viral nucleic acid in silver stained polyacrylamide gels. J Clin Microbiol 16:473–477
  Google Scholar
• Jakubiczka S, Arnemann J, Cooke HJ, Krawczak M, Schmidtke J (1989) A search for restriction fragment length polymorphisms on the human Y chromosome. Hum Genet 84:86–88
  Google Scholar
• Malaspina P, Persichetti F, Novelletto A, Iodice C, Terrenato L, Wolfe J, Ferraro M, Prantera G (1990) The human Y chromosome shows a low level of DNA polymorphism. Ann Hum Genet 54:297–305
  Google Scholar
• Ngo KY, Vergnaud G, Johnson C, Lucotte G, Weissenbach J (1986) A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet 38:407–418
  Google Scholar
• Oakey R, Tyler-Smith C (1990) Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males. Genomics 7:325–330
  Google Scholar
• Pena SDJ, Macedo AM, Braga VMM, Rumjanek FD, Simpson AJG (1990) F10, the gene for the glycine-rich major eggshell protein of Schistosoma mansoni recognizes a family of hypervariable minisatellites in the human genome. Nucleic Acids Res 18:7466
  Google Scholar
• Pena SDJ, Macedo AM, Gontijo NF, Medeiros AC, Ribeiro JCC (1991) DNA BIOPRINTS: simple non-isotopic DNA fingerprints with biotinylated probes. Electrophoresis 12:146–152
  Google Scholar
• Roewer L, Epplen JT (1992) Rapid and sensitive typing of forensicstains by PCR amplification of polymorphic simple repeat sequences in case work. Forensic Sci Int 53:163–171
  Google Scholar
• Roewer L, Arnemann J, Spurr NK, Grzeschik K-H, Epplen JT (1992) Simple repeat sequences on the human Y chromosome arc equally polymorphic as their autosomal counterparts. Hum Genet 89:389–394
  Google Scholar
• Salzano FM, Freire-Maia N (1970) Problems in human biology: a study of Brazilian populations. Wayne Sate University Press, Detroit. Mich
  Google Scholar
• Schafer R, Zischler H, Birsner U, Becker A, Epplen JT (1988) Optimized oligonucleotide probes for DNA fingerprinting. Electrophoresis 9:369–374
  Google Scholar
• Schmid D (1986) Variations of content and structure of the mammalian Y chromosome. In: Sandberg AA (ed) The Y chromosome. Progress and topics in cytogenetics, vol 6A. Liss. New York, pp 373–401
  Google Scholar
• Spurdle A, Jenkins T (1991) Y chromosome probe p49a detects complex _Pvu_II haplotypes and many new _Taq_I haplotypes in southern African populations. Am J Hum Genet 50:107–125
  Google Scholar

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Authors and Affiliations

1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil
   Fabrício R. Santos & Sergio D. J. Pena
2. Núcleo de Genética Médica de Minas Gerais (GENE/MG), Belo Horizonte, Brazil
   Sergio D. J. Pena
3. Molekulare Humangenetik der Ruhr-Universität, Postfach 102148, W-4630, Bochum, Germany
   Jörg T. Epplen

Authors

1. Fabrício R. Santos
2. Sergio D. J. Pena
3. Jörg T. Epplen

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Santos, F.R., Pena, S.D.J. & Epplen, J.T. Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique.Hum Genet 90, 655–656 (1993). https://doi.org/10.1007/BF00202486

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• Received: 10 July 1992
• Revised: 19 August 1992
• Issue date: February 1993
• DOI: https://doi.org/10.1007/BF00202486

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