Q1a3a native-American Y-haplogroup detection in DNA quantification step: A quick diagnosis for Y-chromosome database selection

GINART, S.; CAPUTO, M.; CORACH, D.; SALA, A.

Forensic Science International: Genetics Supplement Series

Elsevier

Año: 2019 vol. 7 p. 315 - 317

1875-1768

We present the optimization of a previously developed DNA quantification approach that now makes possiblethe simultaneous detection of Q1a3a Native-American Y-chromosome haplogroup by means of real time-PCRfollowed by high resolution melting (HRM) analysis. Genotyping is possible by differences in melting temperature(Tm) of one specific Y-chromosome fragment (58bp long, included in the reaction cocktail) whichcontains the M3-Q3 C/T polymorphism. The specific variant M3-Q3/T (Native-American lineage) has a Tm ≈76 °C, whereas M3-Q3/C (non-Native-American) has Tm ≈ 77 °C. Fifty reference male DNA samples (blood andmuscle from autopsy) were analyzed. DNA concentration ranged from 0,01 to 28 ng/μL. Thirteen showed Native-American signature (TmT=76,02 ± 0,04) while thirty-seven as non-Native-American (TmC = 77,13 ± 0,06).These results were compared to those predicted from Y-STRs by White Athey´s on-line software. Caseworksamples containing male DNA were quantified and successfully haplogrouped. The STRs profiles, subsequentlyobtained, correlated well with quantitation results. This system represents an approach that provides valuableinformation at early stages of genotyping process, and useful for choosing the most suitable Y-chromosomedatabase for statistical evaluations.