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Volume 43, Issue 5 (September 1998)

ISSN: 0022-1198
CODEN: JFSCA
Page Count: 4


Development of a Highly Polymorphic STR Marker for Identity Testing Purposes at the Human Androgen Receptor Gene (HUMARA)
Perreault, C
Centre de Recherche Guy Bernier, Hopital Maisonneuve-Rosemont, Quebec

Desmarais, D
PRO-ADN Diagnostic, Polyservices Maisonneuve-Rosemont, Quebec

Busque, L

Chakraborty, R
Human Genetics Center, University of Texas, TX

Zhong, Y
Human Genetics Center, University of Texas, TX

(Received 22 September 1997; accepted 29 January 1998)

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 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.



Keywords:
forensic science, paternity testing, HUMARA, short tandem repeat, electrophoretic resolution, allele frequencies, French Canadian

Paper ID: JFS14355J
DOI: 10.1520/JFS14355J
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Author Title Development of a Highly Polymorphic STR Marker for Identity Testing Purposes at the Human Androgen Receptor Gene (HUMARA) Symposium , 0000-00-00 Committee E30