The β-globin gene is on the short arm of human chromosome 11

Abstract

Investigations on the regulation of human globin gene expression are assisted by a knowledge of the chromosomal location of the globin genes. Previous studies1 have mapped the α-globin locus to human chromosome (HC) 16, and have shown that the human globin gene complex γ-δ-β co-segregates with lactate dehydrogenase A (LDH-A) and the presence of HC 11 in somatic cell hybrids2,3. Radioactively labelled globin complementary DNA (cDNA) probes were used in molecular hybridisation experiments to determine the chromosomal locations of the α- and β-globin genes. When human × rodent somatic cell hybrids are used which contain well-defined parts of human chromosomes, direct mapping of genes of chromosomal regions or single bands is possible4,5. We have regionally localised the human β-globin gene using two sets of hybrid cell lines: (1) Chinese hamster × human hybrid cells containing the HC11 long arm or both the short and long arms and (2) mouse × human hybrids containing only the HC 11 short arm. The techniques of liquid molecular hybridisation3 and Southern blotting6 with 32P-labelled human β–globin cDNA (from plasmid JW102)7 have been used to localise the β-globin gene sequence to region 11p11 → 11p15. Similar results were reported recently by Jeffreys et al.8.