High resolution gene mapping of the human oa globin locus

SUMMARY A combination of polymorphic DNA markers, cytogenetic analysis, and in situ hybridisation has been used for the high resolution assignment of the human a globin gene cluster on chromosome 16. Multiallelic DNA probes from within the a globin cluster were used to determine the number of copies of this locus in three cell lines containing trisomies of the short arm of chromosome 16 and one with a familial inversion, inv(16). The breakpoints in these rearrangements flank the a globin locus and locate a shortest region of overlap to 16pl 3-1. A meiotic crossover was also localised to this band. In situ hybridisation of biotinylated DNA probes to normal and inverted chromosomes 16 [inv(16)(p13 1;q22)] showed hybridisation sites at opposite ends of the chromosomes, consistent with this regional localisation. The precise regional localisation highly poly- morphic DNA markers is of fundamental importance in establishing a human genetic map.' With accurately localised markers, the combined use

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