Sono stati esaminati 360 individui provenienti dalle tre maggiori isole del Mediterraneo Occident... more Sono stati esaminati 360 individui provenienti dalle tre maggiori isole del Mediterraneo Occidentale: Sardegna (Italia), Sicilia (Italia) e Corsica (Francia). Il DNA e stato amplificato tramite PCR e i frammenti sono stati separati usando un gel di poliacrilammide. I microsatelliti analizzati nel presente lavoro sono: GABRB3, D15S108, LIPC, D13S115, D13S270. La distribuzione delle frequenze alleliche hanno mostrato differenze significative tra le isole. I 5 microsatelliti presentano un elevato potere di discriminazione (PD) e un elevato contenuto di informazione polimorfica (PIC). Il potere di discriminazione piu alto e stato trovato per il GABRB3 e secondariamente per D13S115, che ha mostrato anche il piu alto valore del PIC. I confronti con le altre popolazioni hanno evidenziato un netto raggruppamento delle popolazioni per continenti, in particolare gli europei mostrano una piu ridotta eterogeneita genetica rispetto agli altri continenti. I risultati ottenuti dimostrano che tali ...
The researchers that work on sport field try to understand why and how an athlete can reach the t... more The researchers that work on sport field try to understand why and how an athlete can reach the top level in different sports, in other words which are the factors that contribute to shape an elite athlete. In this, the anthropological and molecular ones cover a great importance. The anthropological aspects are steered in the defining the athlete’s physical structure in different sport, the molecular aspects could contribute to define the genetic profile of the athletes. Artistic gymnastics is a highly skilled sport with a great coordinative component which significantly influences the athletes’ performance and consequently the result. A such coordinative characteristic makes the study of this sport extremely complex, but, at the same time, it is also the factor that stimulates the sitting up of specific methodology to investigate the biomechanical and functional aspects that regulate gymnastics performance. Besides, this discipline requires years of hard training since a very young...
Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR(®)... more Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR(®) Y-FilerTM amplification kit, were analyzed for the first time in different samplings (N=268) from Sardinia, Italy. Samples were collected from three isolated populations (N=139) and three open populations (N=129). A total of 230 unique haplotypes were detected; the observed haplotype diversity and discrimination capacity were 0.998 and 0.858, respectively. The data presented confirm that Sardinian population is well differentiated from other Italian and Mediterranean populations. Although regarded as a homogeneous population, substantial heterogeneity was detected when Sardinian isolated villages or microareas were analyzed. Our results highlights the importance of building a Sardinia-own database, organized by small areas, as a powerful tool for both forensic applications and population genetics studies.
Proceedings of the Royal Society B: Biological Sciences, 2011
Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has... more Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion has moved away from Palaeolithic origins to the notion of a younger Neolithic spread of these chromosomes from the Near East. Here, we address this debate by investigating frequency patterns and diversity in the largest collection of R1b1b2-M269 chromosomes yet assembled. Our analysis reveals no geographical trends in diversity, in contradiction to expectation under the Neolithic hypothesis, and suggests an alternative explanation for the apparent cline in diversity recently described. We further investigate the young, STR-based time to the most recent common ancestor estimates proposed so far for R-M269-related lineages and find evidence for an appreciable effect of microsatellite choice on age estimates. As a consequence, the existing data and tools are insufficient to make credible estimates for the age of this haplogroup, and conclusions about the timing of it...
A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for th... more A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for the following serum protein polymorphisms: haptoglobin (HP), group-specific component subtypes (GC), orosomucoid (ORM), third component of complement (C3), transferrin C subtypes (TF) and alpha 1-antitrypsin subtypes (PI). The gene frequencies in the whole sample were: HP1 = 0.821; GC1S = 0.698; GC1F = 0.058; GC2 = 0.244; ORMS = 0.434; C3S = 0.699; C3F = 0.289; C3var = 0.012; TFC1 = 0.955; PIM1 = 0.467; PIM2 = 0.004; PIM3 = 0.529. The studied Piaroa sample came from three different communities: Gavilan, Paria and Alto Carinagua. The distribution of GC, C3 and HP polymorphisms was heterogeneous within the three groups. All the examined serum protein markers were polymorphic, in contrast to some enzymatic markers (ADA, DIA, 6PGD, AK) previously studied, which were shown to be monomorphic in the Piaroa. The results were compared with data from other populations living in the same territory.
Il presente contributo analizza la relazione tra l'altezza e la sopravvivenza della popolazione m... more Il presente contributo analizza la relazione tra l'altezza e la sopravvivenza della popolazione maschile di un comune dell'area interna della Sardegna. Il comune di Villagrande Strisaili è stato selezionato per uno studio più approfondito. Attraverso la tecnica del linkage individuale per i coscritti nati tra il 1866 e il 1915 l'esatta età al decesso rintracciata nei registri dello stato civile è stata messa in relazione all'altezza rilevata all'atto della visita di leva. Dall'analisi emerge l'esistenza di una correlazione negativa significativa tra altezza e longevità tra quanti sopravvivono oltre i 70 anni.
Variants of CCR5 and CCR2 genes are related with different susceptibility to HIV-1 infection. Par... more Variants of CCR5 and CCR2 genes are related with different susceptibility to HIV-1 infection. Particulary, homozygous subjects for CCR5€ Δ32 mutation show an high protection against infection, while heterozygous subjects show a delayed disease progression. Both homozygous and heterozygous subjects carrying CCR2-64I mutation show delayed disease progression. In this study we analyse these polymorphisms in some Mediterranean populations. Results confirm the presence of these variants in Mediterranean populations and suggest the validity of these markers for populations genetic analysis. Piras, I. S., Vacca, L., Calò, C. M., Falchi, A., Ghiani, M. E., Varesi, L., Vona, G., 2005, Distribuzione delle varianti € Δ32 e 64I dei geni per il CCR5 e il CCR2 in alcune popolazioni del Mediterraneo. Antropo, 9, 29-39. www.didac.ehu.es/antropo Piras et al., 2005. Antropo, 9, 29-39. www.didac.ehu.es/antropo 30 Introduzione Alcune varianti dei geni codificanti per i recettori CCR5 e CCR2 sono stati ...
Summary: By this investigation we want to contribute to our knowledge on the genetic characterist... more Summary: By this investigation we want to contribute to our knowledge on the genetic characteristics of the Corsican population. The distribution of seven genetic serum protein markers (PI, TF, GC, ORM, HP, C3, PLG) was analyzed in a sample of 291 individuals ...
McBeath S, et al (1992) Towards the molecular localisation of the AZF locus: mapping of microdele... more McBeath S, et al (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1:29-33 Manova K, Nocka K, Besmer P, Bachvarova RF (1990) Gonadal expression of c-kit encoded at the W locus of the mouse. Development 110:1057-1069 Markkula M, Hamalainen T, Loune E, Huhtaniemi I (195) The follicle-stimulating hormone (FSH) beta-and common alpha-subunits are expressed in mouse testis, as determined in wild-type mice and those transgenic for the FSH betasubunit/herpes simplex virus thymidine kinase fusion gene.
Sono stati esaminati 360 individui provenienti dalle tre maggiori isole del Mediterraneo Occident... more Sono stati esaminati 360 individui provenienti dalle tre maggiori isole del Mediterraneo Occidentale: Sardegna (Italia), Sicilia (Italia) e Corsica (Francia). Il DNA e stato amplificato tramite PCR e i frammenti sono stati separati usando un gel di poliacrilammide. I microsatelliti analizzati nel presente lavoro sono: GABRB3, D15S108, LIPC, D13S115, D13S270. La distribuzione delle frequenze alleliche hanno mostrato differenze significative tra le isole. I 5 microsatelliti presentano un elevato potere di discriminazione (PD) e un elevato contenuto di informazione polimorfica (PIC). Il potere di discriminazione piu alto e stato trovato per il GABRB3 e secondariamente per D13S115, che ha mostrato anche il piu alto valore del PIC. I confronti con le altre popolazioni hanno evidenziato un netto raggruppamento delle popolazioni per continenti, in particolare gli europei mostrano una piu ridotta eterogeneita genetica rispetto agli altri continenti. I risultati ottenuti dimostrano che tali ...
The researchers that work on sport field try to understand why and how an athlete can reach the t... more The researchers that work on sport field try to understand why and how an athlete can reach the top level in different sports, in other words which are the factors that contribute to shape an elite athlete. In this, the anthropological and molecular ones cover a great importance. The anthropological aspects are steered in the defining the athlete’s physical structure in different sport, the molecular aspects could contribute to define the genetic profile of the athletes. Artistic gymnastics is a highly skilled sport with a great coordinative component which significantly influences the athletes’ performance and consequently the result. A such coordinative characteristic makes the study of this sport extremely complex, but, at the same time, it is also the factor that stimulates the sitting up of specific methodology to investigate the biomechanical and functional aspects that regulate gymnastics performance. Besides, this discipline requires years of hard training since a very young...
Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR(®)... more Allele frequencies of 17 Y-chromosome short tandem repeat (STR) loci, included in the AmpFlSTR(®) Y-FilerTM amplification kit, were analyzed for the first time in different samplings (N=268) from Sardinia, Italy. Samples were collected from three isolated populations (N=139) and three open populations (N=129). A total of 230 unique haplotypes were detected; the observed haplotype diversity and discrimination capacity were 0.998 and 0.858, respectively. The data presented confirm that Sardinian population is well differentiated from other Italian and Mediterranean populations. Although regarded as a homogeneous population, substantial heterogeneity was detected when Sardinian isolated villages or microareas were analyzed. Our results highlights the importance of building a Sardinia-own database, organized by small areas, as a powerful tool for both forensic applications and population genetics studies.
Proceedings of the Royal Society B: Biological Sciences, 2011
Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has... more Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion has moved away from Palaeolithic origins to the notion of a younger Neolithic spread of these chromosomes from the Near East. Here, we address this debate by investigating frequency patterns and diversity in the largest collection of R1b1b2-M269 chromosomes yet assembled. Our analysis reveals no geographical trends in diversity, in contradiction to expectation under the Neolithic hypothesis, and suggests an alternative explanation for the apparent cline in diversity recently described. We further investigate the young, STR-based time to the most recent common ancestor estimates proposed so far for R-M269-related lineages and find evidence for an appreciable effect of microsatellite choice on age estimates. As a consequence, the existing data and tools are insufficient to make credible estimates for the age of this haplogroup, and conclusions about the timing of it...
A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for th... more A sample of 121 Piaroa Indians from the Federal Amazonia Territory (Venezuela) was studied for the following serum protein polymorphisms: haptoglobin (HP), group-specific component subtypes (GC), orosomucoid (ORM), third component of complement (C3), transferrin C subtypes (TF) and alpha 1-antitrypsin subtypes (PI). The gene frequencies in the whole sample were: HP1 = 0.821; GC1S = 0.698; GC1F = 0.058; GC2 = 0.244; ORMS = 0.434; C3S = 0.699; C3F = 0.289; C3var = 0.012; TFC1 = 0.955; PIM1 = 0.467; PIM2 = 0.004; PIM3 = 0.529. The studied Piaroa sample came from three different communities: Gavilan, Paria and Alto Carinagua. The distribution of GC, C3 and HP polymorphisms was heterogeneous within the three groups. All the examined serum protein markers were polymorphic, in contrast to some enzymatic markers (ADA, DIA, 6PGD, AK) previously studied, which were shown to be monomorphic in the Piaroa. The results were compared with data from other populations living in the same territory.
Il presente contributo analizza la relazione tra l'altezza e la sopravvivenza della popolazione m... more Il presente contributo analizza la relazione tra l'altezza e la sopravvivenza della popolazione maschile di un comune dell'area interna della Sardegna. Il comune di Villagrande Strisaili è stato selezionato per uno studio più approfondito. Attraverso la tecnica del linkage individuale per i coscritti nati tra il 1866 e il 1915 l'esatta età al decesso rintracciata nei registri dello stato civile è stata messa in relazione all'altezza rilevata all'atto della visita di leva. Dall'analisi emerge l'esistenza di una correlazione negativa significativa tra altezza e longevità tra quanti sopravvivono oltre i 70 anni.
Variants of CCR5 and CCR2 genes are related with different susceptibility to HIV-1 infection. Par... more Variants of CCR5 and CCR2 genes are related with different susceptibility to HIV-1 infection. Particulary, homozygous subjects for CCR5€ Δ32 mutation show an high protection against infection, while heterozygous subjects show a delayed disease progression. Both homozygous and heterozygous subjects carrying CCR2-64I mutation show delayed disease progression. In this study we analyse these polymorphisms in some Mediterranean populations. Results confirm the presence of these variants in Mediterranean populations and suggest the validity of these markers for populations genetic analysis. Piras, I. S., Vacca, L., Calò, C. M., Falchi, A., Ghiani, M. E., Varesi, L., Vona, G., 2005, Distribuzione delle varianti € Δ32 e 64I dei geni per il CCR5 e il CCR2 in alcune popolazioni del Mediterraneo. Antropo, 9, 29-39. www.didac.ehu.es/antropo Piras et al., 2005. Antropo, 9, 29-39. www.didac.ehu.es/antropo 30 Introduzione Alcune varianti dei geni codificanti per i recettori CCR5 e CCR2 sono stati ...
Summary: By this investigation we want to contribute to our knowledge on the genetic characterist... more Summary: By this investigation we want to contribute to our knowledge on the genetic characteristics of the Corsican population. The distribution of seven genetic serum protein markers (PI, TF, GC, ORM, HP, C3, PLG) was analyzed in a sample of 291 individuals ...
McBeath S, et al (1992) Towards the molecular localisation of the AZF locus: mapping of microdele... more McBeath S, et al (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1:29-33 Manova K, Nocka K, Besmer P, Bachvarova RF (1990) Gonadal expression of c-kit encoded at the W locus of the mouse. Development 110:1057-1069 Markkula M, Hamalainen T, Loune E, Huhtaniemi I (195) The follicle-stimulating hormone (FSH) beta-and common alpha-subunits are expressed in mouse testis, as determined in wild-type mice and those transgenic for the FSH betasubunit/herpes simplex virus thymidine kinase fusion gene.
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