A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc.

<b>Background:</b> DNA profiling with sets of highly polymorphic autosomal short tandem repeat (STR) markers has been applied in various aspects of human identification in forensic casework for nearly 20 years. However, in some cases of complex kinship investigation, the information provided by the conventionally used STR markers is not enough, often resulting in low likelihood ratio (LR) calculations. In these cases, it becomes necessary to increment the number of loci under analysis to reach adequate LRs. Recently, it has been proposed that single nucleotide polymorphisms (SNPs) could be used as a supportive tool to STR typing, eventually even replacing the methods/markers now employed. <b>Methods:</b> In this work, we describe the results obtained in 7 revised complex paternity cases when applying a battery of STRs, as well as 52 human identification SNPs (SNPforID 52plex identification panel) using a SNaPshot methodology followed by capillary electrophoresis. <b>Results:</b> Our results show that the analysis of SNPs, as complement to STR typing in forensic casework applications, would at least increase by a factor of 4 total PI values and correspondent Essen-Möllerʼs W value. <b>Conclusions:</b> We demonstrated that SNP genotyping could be a key complement to STR information in challenging casework of disputed paternity, such as close relative individualization or complex pedigrees subject to endogamous relations.

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Health promotion and inequality reduction are specific goals of the United Nations 2030 Agenda, which are interconnected with several dimensions of life. This work proposes a composite index SEHVI—socioeconomic health vulnerability index—to address Portuguese population socioeconomic determinants that affect health outcomes. Variables composing SEHVI are aligned with the sustainable development goals considering data and times series availability to enable progress monitoring, and variables adequacy to translate populations’ life conditions affecting health outcomes. Data for 35 variables and three periods were collected from official national databases. All variables are part of one of the groups: Health determinants (social, economic, cultural, and environmental factors) and health outcomes (mortality indicators). Variables were standardized and normalized by “Distance to a reference” method and then aggregated into the SEHVI formula. Several statistical procedures for validation of SEHVI revealed the internal consistency of the index. For all municipalities, SEHVI was calculated and cartographically represented. Results were analyzed by statistical tests and compared for three years and territory typologies. SEHVI differences were found as a function of population density, suggesting inequalities of communities’ life conditions and in vulnerability to health.

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