1. Improving discrimination capacity through rapidly mutating Y-STRs in structured populations from the African continent.
- Author
-
Della Rocca, Chiara, Trombetta, Beniamino, Barni, Filippo, D'Atanasio, Eugenia, Hajiesmaeil, Mogge, Berti, Andrea, Hadi, Sibte, and Cruciani, Fulvio
- Subjects
TANDEM repeats ,LOCUS (Genetics) ,MICROSATELLITE repeats ,Y chromosome ,HAPLOTYPES ,AFRICANS - Abstract
Y chromosome short tandem repeats (Y-STRs) typing is becoming increasingly popular in forensic casework mainly because it allows the recovery of male-specific genetic information from severely unbalanced male-female DNA mixtures. The relatively low discrimination power of conventional Y-STR multiplexes, due to linkage disequilibrium among polymorphic loci, has been partially overcome by the introduction of rapidly mutating Y microsatellites (RM Y-STRs) with mutation rates exceeding 1 × 10
-2 /generation. In previous works, we reported an unexpectedly high level of haplotype sharing among African males using the Yfiler Plus PCR Amplification kit, the most powerful commercially available system, including 19 conventional Y-STRs and 6 RM Y-STRs. In particular, analyzing 1370 males from northern, eastern and central Africa, 240 subjects were found to share 100 Y-STR haplotypes. We attributed the relatively low discrimination capacity to several factors including patrilocality, endogamy, sampling bias and degree of urbanization. In the present study, using a blind search analysis based on 16 autosomal STRs, we first investigated the kinship between pairs of African males previously found to share the Yfiler Plus haplotype; then, we evaluated the improvement in identification capacity allowed by a PCR multiplex assay (RM-YPlex) based on 13 "first generation" RM Y-STR, seven of which are not included in the Yfiler Plus multiplex. Among 228 pairs of males sharing a Yfiler Plus haplotype, we detected 134 related (cousins or closer) and 94 unrelated (or distantly related) pairs of subjects. By using the RM-YPlex, we observed a full genotype concordance for the six loci shared with the Yfiler Plus, while the additional seven RM Y-STRs allowed the discrimination among 58.2 % related pairs and 84.0 % unrelated pairs. The discrimination capacity increased from 0.898 to 0.958, while the proportion of males sharing a haplotype decreased from 17.5 % to 8.0 %. These findings further highlight the capability of RM Y-STRs to distinguish males even in close kinship scenarios and in sub-structured populations as African ones, but at the same time call for the discovery and testing of additional RM Y-STRs to fully differentiate male relatives. • Discrimination power of RM Y-STRs in endogamous African populations was investigated. • Low discrimination power previously observed is only partially due to close kinship. • Discrimination capacity increased from 0.898 (Yfiler Plus) to 0.958 using RM Y-STRs. • Additional RM Y-STRs are required to fully differentiate male relatives. [ABSTRACT FROM AUTHOR]- Published
- 2022
- Full Text
- View/download PDF