Abstract

Recent advances in human gene mapping have assigned more than 420 genes to various human chromosomes. Regional mapping of genes to specific sites within the chromosome has also been achieved. In addition, more than 130 random human DNA segments have been mapped. This accomplishment has mainly resulted from somatic cell genetics and more recently from recombinant DNA technology and in situ hybridization. Human/rodent cell hybrids can be constructed for retaining specific human chromosomes. Useful hybrid clone panels have been established which contain unique combinations of human chromosomes for convenient synteny analysis. Recombinant DNA techniques have provided means for a direct assay of the structural genes in the human genome by Southern blot analysis. Recombinant DNA techniques have provided means for a direct assay of the structural genes in the human genome by Southern blot analysis. Using these methods, at least 9 oncogenes have been successfully assigned to specific human chromosomes. Recent findings that certain oncogenes are located in the chromosomal regions involved in consistent translocations found in certain cancers have prompted extensive research activities attempting to elucidate the role of oncogenes in eliciting these malignancies. Genetic predisposition to certain forms of cancer has been shown to involve specific chromosomal deletions, suggesting a recessive nature of the genes involved. It appears essential to identify genes in these deleted regions. Together with gene mapping methodologies and genetic fine structure analysis, alterations on the nucleotide level involving structural or regulatory sequences may be detected which may underlie the molecular etiology of certain human neoplasia.

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