title: Population genetic data and forensic parameters of 30 autosomal InDel markers in Santa Catarina State population, Southern Brazil.
abstract: The application of DNA technology in forensic investigations has grown rapidly in the last 25 years and with an exponential increase of short tandem repeats (STRs) data, usually presented as allele frequencies, that may be later used as databases for forensic and population genetics purposes. Thereby, classes of molecular markers such as single nucleotide polymorphisms and insertions/deletions (InDels) have been presented as another option of genetic marker sets. These markers can be used in paternity cases, when mutations in STR polymorphisms are present, as well as in highly degraded DNA analysis. In the present study, the allele frequencies and heterozygosity (H) of a 30 InDel markers set were determined and the forensic efficacy was evaluated through estimation of discrimination power (DP), match probability, typical paternity index and power of paternity exclusion in 108 unrelated volunteers from the State of Santa Catarina (South Brazil). The observed H per locus showed a range between 0.370 and 0.574 (mean = 0.479). HLD128 was the locus with the highest DP (DP = 0.656). DP for all markers combined was greater than 99.9999999999646 % which provides satisfactory levels of information for forensic demands. Genetic comparisons (exact tests of population differentiation and pairwise genetic distances) revealed that the population of Santa Catarina State differs from Korea and USA Afro-American populations but is similar to the Portuguese, German, Polish, Spanish and Basque populations.
authors.affiliation: Instituto Geral de Perícias de Santa Catarina, Florianópolis, Brazil.
authors.forename: Sandra Regina Rachadel
authors.initials: SR
authors.lastname: Torres
authors.forename: Clineu Julien Seki
authors.initials: CJ
authors.lastname: Uehara
authors.forename: Ana Frederica
authors.initials: AF
authors.lastname: Sutter-Latorre
authors.forename: Bibiana Sgorla
authors.initials: BS
authors.lastname: de Almeida
authors.forename: Tania Streck
authors.initials: TS
authors.lastname: Sauerbier
authors.forename: Yara Costa Netto
authors.initials: YC
authors.lastname: Muniz
authors.forename: Andrea Rita
authors.initials: AR
authors.lastname: Marrero
authors.forename: Ilíada Rainha
authors.initials: IR
authors.lastname: de Souza
mesh_terms: D001938:Brazil; D030541:Databases, Genetic; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D056426:Genetic Loci; D005819:Genetic Markers; D005828:Genetics, Population; D015894:Genome, Human; D060005:Genotyping Techniques; D006579:Heterozygote; D006801:Humans; D054643:INDEL Mutation; D015810:Linkage Disequilibrium; D018895:Microsatellite Repeats; D058974:Phylogeography; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers