Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA)

Danielle Desmarais, Yixi Zhong, Ranajit Chakraborty, Claude Perreault, Lambert Busque

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240 Scopus citations


We developed a non-isotopic method which improves the technical quality of the X-linked HUMARA locus typing process. The use of formamide and a low concentration of acrylamide increased resolution and sharpness of HUMARA alleles in silver-stained polyacrylamide gels. In addition, the construction of an allelic ladder containing amplified sequence of 9 alleles (even- numbered alleles) of the HUMARA locus, allows confident, rapid and precise assignment of discretely defined alleles. Allele and genotype frequencies for the HUMARA locus were determined in a French Canadian population sample. Observed genotype frequencies in females conformed to Hardy-Weinberg expectations. Furthermore, the HUMARA locus is highly polymorphic with 18 observed alleles and an heterozygosity value of 89.3%. Also, this locus has average powers of discrimination of 97.8% and 88.7% for testing samples of female and male origin, respectively. In the French Canadian population, the average probability of excluding a random man as the father in paternity analysis when both mother and daughter are tested for this locus is 88.0%. Together, the results indicate that the HUMARA locus provides a highly discriminatory system that is appropriate for the purposes of forensic identification and paternity testing involving a female child.

Original languageEnglish
Pages (from-to)1046-1049
Number of pages4
JournalJournal of Forensic Sciences
Issue number5
StatePublished - Sep 1998


  • Allele frequencies
  • Electrophoretic resolution
  • Forensic science
  • French Canadian
  • Paternity testing
  • Short tandem repeat


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