Dermatoglyphics and the origin of races

Digital pattern type frequencies and frequencies of patterns in the Hypothenar, Thenar/Ist interdigital, IInd and IIIrd interdigital areas have been used for computing multivariate distances among four human geographical races. Results: Europids and Negrids stand near one another, Mongolids are remote from both and Australids are more remote from the three other races. This pattern of phenetic relationships corresponds to the evolutionary tree of Homo sapiens as reconstructed by the author on the basis of palaeoanthropological data.     

Genetics and the origin of the genetic code

The genetic code has been analysed by a method similar to that used by Gregor Mendel. The current codon catalogue is shown to be symmetrically subdivisible into two discrete subcatalogues of eight quartets each by classifying the quartets asmonocoding (for one amino acid only) vsheterocoding (for two amino acids or for amino acid plus nonsense). The internal symmetries of the two subcatalogues are identical, and are governed by two common parity rules. These rules, together with one governing the subdivision itself, can be explained by the hypothesis that two primaeval sets of polynucleotide-borne anticodons, corresponding closely but not exactly with the subcatalogues originated independently and separately (were not originally together within any replicating pre-or proto-biont). The discorrespondence between the primaeval sets and the subcatalogues is itself symmetrical, involving quartets sharing identical locations in the two subcatalogues. The primaeval sets correspond exactly with the subdivisions of the catalogue proposed by Skoog and co-workers on the basis of the presence vs the absence of cytokinins or “cytokininlike bases” adjacent to the anticodons. A molecular model for the origin of the primaeval anticodon sets is described, and the relationship of the hypothesis with the origin of life, together with some possibilities for testing it, are discussed.     

Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin.

One hundred and two benign, mature ovarian teratomas and two immature, malignant teratomas were karyotyped and scored for centromeric heteromorphisms as part of an ongoing project to determine the chromosomal karyotype and the genetic origin of ovarian teratomas and to assess their utility for gene-centromere mapping. Karyotypic analysis of the benign cases revealed 95 46,XX teratomas and 7 chromosomally abnormal teratomas (47,XXX, 47,XX,+8 [two cases], 47,XX,+15, 48,XX,+7,+12 91,XXXX,-13 [mosaic], 47,XX,-15,+21,+mar). Our study reports on the first cases of tetraploidy and structural rearrangement in benign ovarian teratomas. The two immature cases had modal chromosome numbers of 78 and 49. Centromeric heteromorphisms that were heterozygous in the host were homozygous in 65.2% (n = 58) of the benign teratomas and heterozygous in the remaining 34.8% (n = 31). Chromosome 13 heteromorphisms were the most informative, with 72.7% heterozygosity in hosts. The cytogenetic data indicate that 65% of teratomas are derived from a single germ cell after meiosis I and failure of meiosis II (type II) or endoreduplication of a mature ovum (type III); 35% arise by failure of meiosis I (type I) or mitotic division of premeiotic germ cells (type IV).     

Sister-chromatid exchange in 4 human races

The frequencies of sister-chromatid exchanges (SCE) were investigated in lymphocytes in 32 normal adult individuals of both sexes with no interracial familial backgrounds from Caucasian, American black, oriental and native American races. There was no significant difference in the average frequency of SCEs in the 4 races.     

Genetic and morphological distances between major human races

Dendrograms reflecting differentiation for structural gene markers' frequencies and for polygenic morphological traits of major human races represented by a series of ethnoterritorial groups are considered. It is claimed that separation of the negroid branch preceded the divergence of europeoids and mongoloids. The conclusion is drawn that the hypothesis of initial separation of humans to Euro-African and Asian-Oceanic groups of populations does not hold.     

Genetics of human obesity

We present the knowledge acquired in the field of the genetics of human obesity. The molecular approach proved to be powerful to define new syndromes associated to obesity. The pivotal role of leptin and melanocortin pathways were recognized but in rare obesity cases. In the commoner form of obesities, a multitude of polymorphisms located in genes and candidate regions participate in an individual susceptibility to weight gain in a permissive environment. The effects are often uncertain and the results not always confirmed. It is now necessary to integrate data of various origins (environment, genotype, expression) to clarify the domain.     

Genetics of human height

Height is correlated with risk to certain diseases and various socio-economic outcomes. As an easy to observe and measure trait, it has been a classic paradigm in the emergence of fundamental concepts regarding inheritance and genetics. Resemblances in height between relatives suggest that 80% of height variation is under genetic control with the rest controlled by environmental factors such as diet and disease exposure. Nearly a century ago it was recognised that many genes were likely to be involved but it is only with recent advances in technology that it has become possible to comprehensively search the human genome for DNA variants that control height. About 50 genes and regions of the genome have been associated with height to date. These begin to explain the biological basis of height, its links to disease and aid our understanding of the evolution of human height. The genes discovered so far have a very small individual effect and hundreds, maybe thousands, more of even smaller effects are still lost in the genome. Despite a successful start to height gene mapping, there remain considerable theoretical, technological, and statistical hurdles to be overcome in order to unravel its full genetic basis.