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A combination of polymorphic DNA markers, cytogenetic analysis, and in situ hybridisation has been used for the high resolution assignment of the human alpha globin gene cluster on chromosome 16. Multiallelic DNA probes from within the alpha 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 alpha globin locus and locate a shortest region of overlap to 16p13.1. 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.

Type

Journal article

Journal

J Med Genet

Publication Date

1987

Volume

24

Pages

39 - 46

Keywords

Chromosome Mapping Chromosomes, Human, Pair 16/*ultrastructure Crossing Over (Genetics) Globins/*genetics Human Inversion (Genetics) Nucleic Acid Hybridization Polymorphism, Restriction Fragment Length Support, Non-U.S. Gov't