We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA. Each of these probes will define a locus. Loci can be expanded or contracted to include more or less polymorphism by further application of recombinant DNA technology. Suitably polymorphic loci can be tested for linkage relationships in human pedigrees by established methods; and loci can be arranged into linkage groups to form a true genetic map of "DNA marker loci." Pedigrees in which inherited traits are known to be segregating can then be analyzed, making possible the mapping of the gene(s) responsible for the trait with respect to the DNA marker loci, without requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

▪ Abstract Several unique properties of human mitochondrial DNA (mtDNA), including its high copy number, maternal inheritance, lack of recombination, and high mutation rate, have made it the molecule of choice for studies of human population history and evolution. Here we review the current state of knowledge concerning these properties, how mtDNA variation is studied, what we have learned, and what the future likely holds. We conclude that increasingly, mtDNA studies are (and should be) supplemented with analyses of the Y-chromosome and other nuclear DNA variation. Some serious issues need to be addressed concerning nuclear inserts, database quality, and the possible influence of selection on mtDNA variation. Nonetheless, mtDNA studies will continue to play an important role in such areas as examining socio-cultural influences on human genetic variation, ancient DNA, certain forensic DNA applications, and in tracing personal genetic history.

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Mitochondrial DNA and human evolution

The evolution of human skin coloration.

Malaria is among the oldest of diseases. In one form or another, it has infected and affected our ancestors since long before the origin of the human line. During our recent evolution, its influence has probably been greater than that of any other infectious agent. Here we attempt to trace the forms and impacts of malaria from a distant past through historical times to the present. In the last sections, we review the current burdens of malaria across the world and discuss present-day approaches to its management. Only by following, or attempting to follow, malaria throughout its evolution and history can we understand its character and so be better prepared for our future management of this ancient ill.

Evolutionary and Historical Aspects of the Burden of Malaria

doi:10.1038/ng1113 The past decade of advances in molecular genetic technology has heralded a new era for all evolutionary studies, but especially the science of human evolution. Data on various kinds of DNA variation in human populations have rapidly accumulated. There is increasing recognition of the importance of this variation for medicine and developmental biology and for understanding the history of our species. Haploid markers from mitochondrial DNA and the Y chromosome have proven invaluable for generating a standard model for evolution of modern humans. Conclusions from earlier research on protein polymorphisms have been generally supported by more sophisticated DNA analysis. Co-evolution of genes with language and some slowly evolving cultural traits, together with the genetic evolution of commensals and parasites that have accompanied modern humans in their expansion from Africa to the other continents, supports and supplements the standard model of genetic evolution. The advances in our understanding of the evolutionary history of humans attests to the advantages of multidisciplinary research. review

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The application of molecular genetic approaches to the study of human evolution.

The distribution of the human blood groups, and other polymorphisms

A study has been made of three neighbouring populations living at 1500, 3000 and 3700 m in the northern Simien of Ethiopia. The environments of these populations not only differ in many climatic elements, but also probably in nutritional factors and exposure to infections. The growth and physique of the people vary with altitude and the lowlanders (at 1500 m) tend to have a more linear body build. Differences in chest dimensions can be related to functional differences in respiratory physiology, since the highland groups, both male and female, have larger forced expiratory volumes and forced vital capacities as compared with the lowlanders. The relationships between these measures of respiratory function and age, stature and weight also tend to be dependent on altitude, but in all the Ethiopian groups there is a closer relationship between body weight and respiratory capacity than in other populations. This distinctiveness is probably due to the characteristics of Ethiopian physique. A slight polycythaemia and elevated packed cell volume are evident in the highland groups but, unexpectedly, there is some evidence that at least at the time of the expedition the haemoglobin concentrations were lower. The highlanders also show a raised systolic blood pressure. Blood-group and demographic data suggest that the various populations are probably genetically very similar, and the findings are discussed in terms of physiological and developmental adaptability.

The Effects of Altitudinal Variation in Ethiopian Populations

The blood groups of Icelanders

Blood specimens were collected from 184 Kurds living in those parts of northwest Iran from which many of the Kurdish Jews, tested in Israel, or their parents, came. Tests were done for the antigens of 10 blood group systems, for the genetic variants of six systems of plasma proteins, and of nine systems of red cell enzymes, and for abnormal haemoglobins. The gene frequencies calculated from the results do not differ greatly from those found in neighbouring populations. They also show a general resemblance to those of the Kurdish Jews, except that the latter have a very much higher incidence of glucose 6-phosphate dehydrogenase deficiency. The possible reasons for this marked difference affecting one genetic system only, are discussed.

XI. The hereditary blood factors of the Kurds of Iran.

Blood samples from the Waskia and Takia populations of Karkar Island, Papua New Guinea, and other nearby mainland populations, were tested for genetic variation in blood group, serum protein and red c

D. Tills

Papers

The distribution of the human blood groups, and other polymorphisms

The Effects of Altitudinal Variation in Ethiopian Populations

The blood groups of Icelanders

XI. The hereditary blood factors of the Kurds of Iran.

Red cell antigen, serum protein and red cell enzyme polymorphisms in Karkar Islanders and inhabitants of the adjacent North Coast of New Guinea.