Identification of a novel polymorphism in the X-chromosome region homologous to the DYS456 locus.
During an extensive multipopulation study with Y-short tandem repeat (STR) loci, amplified using the AmpFlSTR Yfiler PCR amplification kit, amplification of a 71 bp fragment was observed in 2.32% of the male samples analyzed (N = 3141). By direct sequencing of this fragment, it was determined that the primer binding sequences were identical to those of the DYS456 locus. A T to G single-nucleotide polymorphism (SNP) enabled amplification of the 71 bp fragment. The SNP is located within an X-Y homologous region at Xq21.31 and was observed with the highest frequency within the African American and Sub-Saharan African populations in our study. Presence of SNP on the X chromosome did not interfere with the reliability of typing the DYS456 locus and the other Y-STR loci typeable using the AmpFlSTR Yfiler PCR amplification kit. Full profiles in a mixture of male:female at 1:4000 were obtained using the current configuration of the AmpFlSTR Yfiler kit even in the presence of female DNA containing the G variant.
Chang
Chien-Wei
CW
Applied Biosystems, Foster City, CA 94404, USA. changcw@appliedbiosystems.com
Mulero
Julio J
JJ
Budowle
Bruce
B
Calandro
Lisa M
LM
Hennessy
Lori K
LK
D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics; D017422:Sequence Analysis, DNA; D020080:Tandem Repeat Sequences
D017931:DNA Primers