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1.
Sci Rep ; 7(1): 7341, 2017 08 04.
Article in English | MEDLINE | ID: mdl-28779148

ABSTRACT

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6-20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.


Subject(s)
Alleles , Chromosomes, Human, Y , Genetics, Population , Haplotypes , Gene Frequency , Genetic Variation , Humans , Male , Phylogeny , Polymorphism, Single Nucleotide , White People/genetics
2.
Eur J Hum Genet ; 24(3): 437-41, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26081640

ABSTRACT

The dissection of S116 in more than 1500 individuals from Atlantic Europe and the Iberian Peninsula has provided important clues about the controversial evolutionary history of M269. First, the results do not point to an origin of M269 in the Franco-Cantabrian refuge, owing to the lack of sublineage diversity within M269, which supports the new theories proposing its origin in Eastern Europe. Second, S116 shows frequency peaks and spatial distribution that differ from those previously proposed, indicating an origin farther west, and it also shows a high frequency in the Atlantic coastline. Third, an outstanding frequency of the DF27 sublineage has been found in Iberia, with a restricted distribution pattern inside this peninsula and a frequency maximum in the area of the Franco-Cantabrian refuge. This entire panorama indicates an old arrival of M269 into Western Europe, because it has generated at least two episodes of expansion in the Franco-Cantabrian area. This study demonstrates the importance of continuing the dissection of the M269 lineage in different European populations because the discovery and study of new sublineages can adjust or even completely revise the theories about European peopling, as has been the case for the place of origin of M269.


Subject(s)
Chromosomes, Human, Y/genetics , Phylogeny , Polymorphism, Single Nucleotide/genetics , Europe , Humans , Male
3.
Opcao lacan ; 2(6): 1-5, nov. 2011.
Article in Portuguese | Index Psychology - journals | ID: psi-56900

ABSTRACT

As autoras partem da ideia de que o Édipo é um delírio, uma invenção do neurótico diante da inexistência da relação sexual e sustentando a hipótese de que na clínica da histeria feminina a paranoia normal se apresenta sob a forma da devastação, concluem que a histérica responde criando uma versão singular da Outra.(AU)

4.
DNA Cell Biol ; 29(1): 3-7, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19839735

ABSTRACT

The Y chromosome has been suggested to play a role in prostate cancer (PCa) because the loss of this chromosome is the most common aberration in PCa. Study of short tandem repeats (STRs) could provide a means to rapidly scan genomes at known or unknown predisposing loci for some diseases. DNA samples from 281 patients with PCa at the Portuguese Institute of Oncology, Porto, Portugal, and a population control of 175 healthy controls were analyzed for region Yp11.2 using AmpFlSTR Y-Filer kit (Applied Biosystems). The results demonstrated that microvariant alleles of DYS458 are overrepresented (p = 0.026). We found that allele 12 of DYS393 and allele 19 of DYS458 could have a protective effect (p = 0.0051; odds ratio [OR] = 0.48; 95% confidence interval [95% CI] 0.27-0.38; and p = 0.0272; OR = 0.47; 95% CI 0.22-0.98). On the other hand, patients carrying allele 13 of DYS393 presented an increased risk to PCa (p = 0.015; OR = 1.97; 95% CI 1.26-3.07). These results are in concordance with the involvement of Y chromosome in PCa development. STR allele studies may add further information from the definition of a genetic profile of PCa resistance or susceptibility. As TSPY is located at region Yp11.2, this gene could play an essential role in PCa development.


Subject(s)
Chromosomes, Human, Y/genetics , Genetic Predisposition to Disease , Prostatic Neoplasms/genetics , Alleles , Genetic Variation , Humans , Male
5.
Estilos clin ; 13(24): 146-165, jun. 2008.
Article in Portuguese, Spanish | Index Psychology - journals | ID: psi-41513

ABSTRACT

Este artigo propõe-se a examinar a articulação entre autismo e devastação, suscitada a partir de um caso de uma criança de seis anos. Utilizando os referenciais teóricos de S. Freud e J. Lacan, este trabalho apresenta uma abordagem do tema da devastação tanto no campo da sexualidade feminina quanto no campo das psicoses, e pretende interrogar o que concerne à função da mãe e sua relação com a devastação na clínica do autismo.(AU)


The present article aims at analyzing the relationship between autism and devastation brought about by a case of a six-year-old child. Through S. Freud's and J. Lacan's theoretical references, the theme of devastation is analyzed as far as female sexuality and psychoses are concerned. The present analysis also examines motherly function and its relation with clinic devastation in autists.(AU)


Este articlo se propone a examinar la articulación entre autismo y devastación, suscitada a partir del caso de un niño de seis años. Utilizando los referenciales teóricos de S. Freud y J. Lacan este trabajo presenta un abordage del tema de la devastación tanto en el campo de la sexualidad femenina como en el campo de las psicosis, y pretende interrogar lo que concierne a la función de la madre y su relación con la devastación en la clinica del autismo.(AU)


Subject(s)
Autistic Disorder/psychology , Psychotic Disorders/psychology , Sexuality , Psychoanalysis
6.
Estilos clín ; 13(24): 146-165, jun. 2008.
Article in Portuguese | LILACS | ID: lil-510622

ABSTRACT

Este artigo propõe-se a examinar a articulação entre autismo e devastação, suscitada a partir de um caso de uma criança de seis anos. Utilizando os referenciais teóricos de S. Freud e J. Lacan, este trabalho apresenta uma abordagem do tema da devastação tanto no campo da sexualidade feminina quanto no campo das psicoses, e pretende interrogar o que concerne à função da mãe e sua relação com a devastação na clínica do autismo.


The present article aims at analyzing the relationship between autism and devastation brought about by a case of a six-year-old child. Through S. Freud's and J. Lacan's theoretical references, the theme of devastation is analyzed as far as female sexuality and psychoses are concerned. The present analysis also examines motherly function and its relation with clinic devastation in autists.


Este articlo se propone a examinar la articulación entre autismo y devastación, suscitada a partir del caso de un niño de seis años. Utilizando los referenciales teóricos de S. Freud y J. Lacan este trabajo presenta un abordage del tema de la devastación tanto en el campo de la sexualidad femenina como en el campo de las psicosis, y pretende interrogar lo que concierne a la función de la madre y su relación con la devastación en la clinica del autismo.


Subject(s)
Psychoanalysis , Sexuality , Autistic Disorder/psychology , Psychotic Disorders/psychology
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