Biologia, ecologia i cultura. Una aproximació bibliogràfica

Les relacions entre la natura biolbgica humana, l'entorn físic i la producció cultural han estat estudiades des d'angles molt diversos. Hem renunciat, per això, a elaborar una llista bibliogràfica exhaustiva i referenciar sobretot els llibres i articles de revisió que ofereixen una visió panorhmica, tot i que les anàlisis de cas tampoc no han estat totalment excloses quan representen una aportació significativa en algun àmbit específic

Mobilitat matrimonial i relacions comarcals a Catalunya

El matrimoni pot ser considerat com una institució que garanteix la perpetuació dels lligams socials a les poblacions humanes al mateix temps que esdevé la base de la reproducció biològica i el manteniment de les característiques genètiques de generació en generació. L'estudi dels fluxos matrimonials possibilita l'anàlisi de les relacions entre poblacions a partir de la intensitat del seu intercanvi d'individus i de l'aïllament reproductor representat per l'endogàmia

Complint una intuïció de Darwin: genètica humana i llengües

Les similituds entre la manera com s'hereten i evolucionen els gens i les llengües han promogut l'interès en l'anàlisi conjunta d'ambdós camps. La correlació entre gens i llengües va ser demostrada per primer cop per Cavalli-Sforza i col·laboradors en comparar un arbre construït amb marcadors genètics clàssics amb un arbre lingüístic de les llengües. S'han formulat diverses crítiques a aquest mètode, i se n'han descrit nombroses excepcions. S'ha demostrat que el factor més important que determina la correlació de gens i llengües és la geografia. Nogensmenys, la informació proporcionada per la genètica i la lingüística, ensems amb la proporcionada per altres disciplines, ens permetrà reconstruir la història de la humanitat.The similarities between the mode of inheritance and evolution of genes and languages have fostered interest in the joint analysis of both disciplines. The correlation between genes and languages was firstly demonstrated by Cavalli-Sforza and collaborators comparing a tree build from ‘classical’ genetic markers to a linguistic tree of languages. Several criticisms to this correlation have been raised and a large number of exceptions have been described. It has been shown that the most plausible factor that influences in the correlation of genes and languages is geography. However, the information provided by genetics and linguistics, as well as the one provided by other disciplines, will allow us to reconstruct the history of humankind

Mobilitat matrimonial i relacions comarcals a Catalunya

El matrimoni pot ser considerat com una institució que garanteix la perpetuació dels lligams socials a les poblacions humanes al mateix temps que esdevé la base de la reproducció biològica i el manteniment de les característiques genètiques de generació en generació. L'estudi dels fluxos matrimonials possibilita l'anàlisi de les relacions entre poblacions a partir de la intensitat del seu intercanvi d'individus i de l'aïllament reproductor representat per l'endogàmia

Genetic studies of the Roma (Gypsies): a review

Background: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results: Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups./nConclusion: Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma

The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research

The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research