Typing of Amerindian Kichwas and Mestizos from Ecuador with the SNPforID multiplex

A study of the molecular variants associated with lactase persistence in different Ecuadorian ethnic groups

“…When characterizing the continental ancestry contribution in the Mestizo, Afro-Ecuadorian, and Native American groups, we were able to differentiate these samples when comparing them with the diversity panel HGDP-CEPH reference samples (Table 2) (P 5 0.004), and confirmed the expected ancestry patterns according to their demographic history (Gonz alez-Andrade et al, 2007;Pazy-Miño et al, 2008;Poulsen et al, 2011). When analyzing the ancestral proportion that only considered the European component, the Mestizo group showed higher values (0.337) compared with the Afro-Ecuadorian (0.236) and Native American groups (0.094).…”

Reinvestigations of six unusual paternity cases by typing of autosomal single‐nucleotide polymorphisms

“…A Danish SNP frequency database 3,4 was used for calculation of PI in Case 1, where the individuals were from Germany. An Ecuadorian‐mestizo SNP frequency database 8 was used for calculation of PI in Cases 2, 3, 4, 5, and 6, where the individuals were from Ecuador (Case 2) or Brazil (Case 3‐6). Calculations were performed under the assumption that silent alleles exist.…”

“…The mutation rate of SNPs is expected to be 100,000 times lower than the mutation rate of STRs, which make SNPs highly useful for relationship testing. The SNPs in the SNP for ID multiplex assay were shown to be polymorphic in more than 75 population groups from six different continents 2,4‐8 and allele frequencies are freely available at the SNP for ID homepage 9 . The typical PIs ranged from 10 5 to 10 6 for trios and 10 3 to 10 4 for duos 2,4‐8 (unpublished observations), which is sufficiently high to solve the majority of paternity cases in most countries 1 …”

Expansion of a SNaPshot assay to a 55‐SNP multiplex: Assay enhancements, validation, and power in forensic science

“…Among all the methods, SNaPshot analysis after standard PCR amplification, followed by CE, is the most widely used for SNP detection in forensic science. Based on this method, the 52plex assay has been performed in several laboratories . We previously developed a multiplex typing assay including 44 SNPs selected from the “86 IISNPs” set , which provided a random match probability of 5.59 × 10 −19 and a cumulative power of exclusion of 99.93% for the Han population in Hebei, China.…”