Human Genetics

, Volume 90, Issue 6, pp 655–656 | Cite as

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

  • Fabrício R. Santos
  • Sergio D. J. Pena
  • Jörg T. Epplen
Short Communications


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.


  1. Arnemann J, Jakubiczka S, Schmidtke J, Schafer R, Epplen JT (1986) Clustered GATA repeats (Bkm sequences) on the human Y chromosome. Hum Genet 73:301–303Google Scholar
  2. Chakraborty R (1985) Paternity testing with genetics markers: are Ylinked genes more efficient than autosomal ones? Am J Med Genet 21:29–305Google Scholar
  3. 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 16:473–477Google Scholar
  4. 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 84:86–88Google Scholar
  5. 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 54:297–305Google Scholar
  6. 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 38:407–418Google Scholar
  7. 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 7:325–330Google Scholar
  8. 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 18:7466Google Scholar
  9. Pena SDJ, Macedo AM, Gontijo NF, Medeiros AC, Ribeiro JCC (1991) DNA BIOPRINTS: simple non-isotopic DNA fingerprints with biotinylated probes. Electrophoresis 12:146–152Google Scholar
  10. 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 53:163–171Google Scholar
  11. 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 89:389–394Google Scholar
  12. Salzano FM, Freire-Maia N (1970) Problems in human biology: a study of Brazilian populations. Wayne Sate University Press, Detroit. MichGoogle Scholar
  13. Schafer R, Zischler H, Birsner U, Becker A, Epplen JT (1988) Optimized oligonucleotide probes for DNA fingerprinting. Electrophoresis 9:369–374Google Scholar
  14. 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 373–401Google Scholar
  15. Spurdle A, Jenkins T (1991) Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations. Am J Hum Genet 50:107–125Google Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • Fabrício R. Santos
    • 1
  • Sergio D. J. Pena
    • 1
    • 2
  • Jörg T. Epplen
    • 3
  1. 1.Department of BiochemistryUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  2. 2.Núcleo de Genética Médica de Minas Gerais (GENE/MG)Belo HorizonteBrazil
  3. 3.Molekulare Humangenetik der Ruhr-UniversitätBochumGermany

Personalised recommendations