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

Publisher Summary Aberrant glycosylation is the most common phenomenon associated with oncogenic transformation expressed in cell membranes of animal and human cancer cells. Such aberrant structures at the surface membranes may well be effective targets in prevention, diagnosis, and treatment of human cancer. Many of the aberrant glycosylation products can be recognized by specific MAbs as tumor-associated carbohydrate antigens. Many of these antigens have been identified as carbohydrates, thus there is increasing evidence that essentially all human cancers are characterized by aberrant glycosylation. Aberrant glycosylation as such may be the basis of inappropriate cell/cell and cell/matrix interactions that may be reflected in the abnormal cell social behavior of tumor cells, such as uncontrolled cell growth, invasiveness, and metastatic potential. Whatever the genetic or epigenetic basis of expression of aberrant glycosylation is, the phenomenon is of crucial importance in understanding the antisocial behavior of tumor cells as well as in practical applications in diagnosis and treatment of human cancer.

Aberrant glycosylation in tumors and tumor-associated carbohydrate antigens

The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas O(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.

Molecular genetic basis of the histo-blood group ABO system

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

The distribution of the human blood groups, and other polymorphisms

Blood Groups and Diseases: A Study of Associations of Diseases with Blood Groups and Other Polymorphisms.

Blood groups and diseases : a study of associations of diseases with blood groups and other polymorphisms , Blood groups and diseases : a study of associations of diseases with blood groups and other polymorp , دانشگاه علوم پزشکی ایران

Blood Groups and Diseases: A Study of Associations of Diseases with Blood Groups and Other Polymorphisms

The genetics of the Jews

SummaryBlood specimens were taken from numerous population groups from southern Arabia, south of the borders of Yemen and Saudi Arabia, and tested for blood group antigens of nine systems, haptoglobins, transferrins and red-cell enzymes of six systems. In blood group frequencies the south Arabians resemble the Saudi Arabians in having high frequencies of O, of M and MS, and moderately high frequencies of the African marker genes. The Dia Mongoloid marker gene is found in low frequency in the Hadhramaut. For the serum groups and red-cell enzymes few comparative data in neighbouring countries are available; the frequencies found are on the whole similar to those found in Europe.

A.C. Kopeć

Papers

The distribution of the human blood groups, and other polymorphisms

Blood Groups and Diseases: A Study of Associations of Diseases with Blood Groups and Other Polymorphisms.

Blood Groups and Diseases: A Study of Associations of Diseases with Blood Groups and Other Polymorphisms

The genetics of the Jews

The inherited blood factors of the inhabitants of Southern Arabia.