title: Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA).
abstract: 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.
authors.affiliation: PRO-ADN Diagnostic, Polyservices Maisonneuve-Rosemont, Montreal, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Desmarais
authors.forename: Y
authors.initials: Y
authors.lastname: Zhong
authors.forename: R
authors.initials: R
authors.lastname: Chakraborty
authors.forename: C
authors.initials: C
authors.lastname: Perreault
authors.forename: L
authors.initials: L
authors.lastname: Busque
mesh_terms: D000483:Alleles; D002170:Canada; D004247:DNA / Q000032:analysis; D016172:DNA Fingerprinting / Q000379:methods*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005602:France / Q000208:ethnology; D005787:Gene Frequency; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010334:Paternity; D011110:Polymorphism, Genetic / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D011944:Receptors, Androgen; D004247:DNA