Human Genetics

, Volume 90, Issue 6, pp 655–656

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

DOI: 10.1007/BF00202486

Cite this article as:
Santos, F.R., Pena, S.D.J. & Epplen, J.T. Hum Genet (1993) 90: 655. doi:10.1007/BF00202486


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.

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
  4. 4.Departamento de BioquímicaInstituto de Ciencias Biológicas — UFMGMGBrazil

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