title: Multiplex mtDNA coding region SNP assays for molecular dissection of haplogroups U/K and J/T.
abstract: Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup R. They are both common in Europe, with a combined overall frequency similar to the one reported for H, the most common European haplogroup (40-50%). In this study, we selected 159 Italian subjects, already ascribed to U/K and J/T by RFLP typing, and assigned each mtDNA to specific clades/subclades by investigating at least one diagnostic coding region SNP. For each sister haplogroup, one multiplex PCR and one SNaPshot minisequencing reaction were set up targeting 16 U/K and 7 J/T coding region SNPs. Each mtDNA sample was clearly assigned to a specific subclade, which could be further subdivided into several minor sub-branches according to peculiar HVS I/II motifs. Such a molecular dissection of haplogroups U/K and J/T could be extremely useful to reduce the overall analysis time and labor intensive sequencing procedures in high volume forensic casework, for example when it is important to rapidly exclude samples in order to restrict the number of suspects.
authors: Dipartimento di Medicina Legale e Sanità Pubblica, Università di Pavia, via Forlanini 12, 27100 Pavia, Italy.
authors: P
authors: P
authors: Grignani
authors: C
authors: C
authors: Turchi
authors: A
authors: A
authors: Achilli
authors: G
authors: G
authors: Peloso
authors: M
authors: M
authors: Alù
authors: U
authors: U
authors: Ricci
authors: C
authors: C
authors: Robino
authors: S
authors: S
authors: Pelotti
authors: E
authors: E
authors: Carnevali
authors: I
authors: I
authors: Boschi
authors: A
authors: A
authors: Tagliabracci
authors: C
authors: C
authors: Previderè
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007558:Italy; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial