DNA and protein polymorphism: application to anthropology and human genetics

In this paper, the author analyses the different approaches of the DNA polymorphism. Mitochondrial DNA, RFLP haplotypes associated with serum protein polymorphism, variability of some small regions of the genome detected by minisatellite probes are now well developed and often adapted to population analysis. The data gathered are used to build phylogenic or genealogic trees. Despite the limited number sampled in these investigations, it is obvious that they were obtained to establish a beginning of geographical map distribution of the DNA polymorphisms and to answer basic questions in Anthropology. In this sense, DNA polymorphism is a new way to obtain a large amount of information not available through the different polymorphisms previously performed. Today, the interpretation of the data on DNA polymorphism is based on archeological and prehistorical hypotheses. It is highly probable that for a long time, no phylogenic analysis will be able to determine the step of speciation, the period of emergence of primitive man and of his geographical origins. In some fields of anthropological investigations, studies on the DNA structure and organisation may bring new information on the genetic of skin pigmentation, eye and hair colours, body size, etc. But the essential aim of studies on humans cannot exist out of multidisciplinary follow up including sociology, biology, linguistics, behaviour and economy. Molecular biology of DNA is an additional method from which we can learn a lot about human genetic heterogeneity but man is a group, a society, a population, a tribe and not a certain amount of allele frequencies.     

Anthropometry and numerical taxonomy in clinical genetics: An example of applied biological anthropology

Biological anthropologists can contribute a unique perspective as well as technical expertise to the diagnosis and classification of genetic disorders. Anthropometry has been used with increasing frequency to characterize syndromes and to establish ranges of variation within syndromes. The specific anthropometric-radiologic technique of metacarpophalangeal pattern profile analysis has proven useful in discriminating individuals with the Prader-Labhart-Willi (PLW) syndrome from unaffected persons. Analysis of these data also indicate a negative correlation between age and Z-score transformations of individual hand bone lengths. These findings sound a cautionary note to clinical investigators who would use the Z-score transformation to standardize for age and sex. Problems encountered in the classification of genetic syndromes afford many parallels with those faced by anthropologists in the classification of living and fossil populations. The reliance on “key” traits and the necessity of focusing on pedigree analysis results in a deemphasis of the total range of variation and typological thinking. Application of numerical taxonomic techniques to the classification of the heterogeneous connective tissue disease osteogenesis imperfecta (OI) illustrates the heuristic value of this technique and points out the need to consider phenotypic overlap when defining typologies. Clinical genetics affords just one example of an area in medicine where the unique training and generalist perspective of the biological anthropologist is in demand. The decline in the availability of positions in the traditional academic habitat for biological anthropologists makes it imperative that graduate students be aware of alternatives and that they obtain training in the practical skills which such alternatives will demand.     

Iberia: population genetics, anthropology, and linguistics.

Basques, Portuguese, Spaniards, and Algerians have been studied for HLA and mitochondrial DNA markers, and the data analysis suggests that pre-Neolithic gene flow into Iberia came from ancient white North Africans (Hamites). The Basque language has also been used to translate the Iberian-Tartesian language and also Etruscan and Minoan Linear A. Physical anthropometry of Iberian Mesolithic and Neolithic skeletons does not support the demic replacement in Iberia of preexisting Mesolithic people by Neolithic people bearing new farming technologies from Europe and the Middle East. Also, the presence of cardial impressed pottery in western Mediterranean Europe and across the Maghreb (North Africa) coasts at the beginning of the Neolithic provides good evidence of pre-Neolithic circum-Mediterranean contacts by sea. In addition, pre-dynastic Egyptian El-Badari culture (4,500 years ago) is similar to southern Iberian Neolithic settlements with regard to pottery and animal domestication. Taking the genetic, linguistic, anthropological, and archeological evidence together with the documented Saharan area desiccation starting about 10,000 years ago, we believe that it is possible that a genetic and cultural pre-Neolithic flow coming from southern Mediterranean coasts existed toward northern Mediterranean areas, including at least Iberia and some Mediterranean islands. This model would substitute for the demic diffusion model put forward to explain Neolithic innovations in Western Europe.