Abstract
Recombinant DNA technology has provided a new class of genetic markers that will greatly facilitate the construction of a human gene map (Botstein et al, Am J Hum Genet 32:314, 1980). DNA sequence variation in human populations is detectable as variants in the lengths of the DNA fragments produced by restriction enzymes (Restriction Fragment Length Polymorphism, or RFLP). A cloned recombinant DNA fragment has been found to be homologous to Eco R1 fragments of different length in different individuals. This RFLP locus includes at least 8 alleles that are inherited as codominant traits (Wyman and White, PNAS, 77:6754, 1980).
We used the recombinant plasmid pAW101 as a probe to examine the presence of homologous sequences in the DNA extracted from 17 human x Chinese hamster somatic cell hybrid clones. The hybrids were derived from 5 different human donors, 4 of whom were heterozygous producing 2 band patterns (all different) on Southern blots. The recombinant plasmid probe did not hybridize with DNA from the hamster parental cell line. The presence of human homologous sequences in the hybrids correlated exclusively with the presence of human chromosome 14. Two hybrids contained chromosome 14 in a frequency of greater than 1 per cell and were positive for both alleles. Three hybrids containing only the distal half of the long arm of 14, as part of a translocation, were still positive. These results assign the first highly polymorphic RFLP locus identified in man to region q21→qter of chromosome 14.
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De Martinville, B., Wyman, A., White, R. et al. 710 ASSIGNMENT OF THE FIRST HIGHLY POLYMORPHIC DNA MARKER LOCUS TO A HUMAN CHROMOSOME REGION. Pediatr Res 15 (Suppl 4), 560 (1981). https://doi.org/10.1203/00006450-198104001-00733
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DOI: https://doi.org/10.1203/00006450-198104001-00733