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| Development of a Highly Polymorphic STR Marker for Identity Testing Purposes at the Human Androgen Receptor Gene (HUMARA) REFERENCE: Desmarais D, Zhong Y, Chakraborty R, Perreault C, Busque L. Development of a highly polymorphic STR marker for identity testing purposes at the human androgen receptor gene (HUMARA). J Forensic Sci 1998;43(5):1046-1049. 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 assigment 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 bothy 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. KEYWORDS: forensic science, paternity testing, HUMARA, short tandem repeat, electrophoretic resolution, allele frequencies, French Canadian |
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