The beta-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 studies have mapped the alpha-globin locus to human chromosome (HC) 16, and have shown that the human globin gene complex gamma-delta-beta co-segregates with lactate dehydrogenase A (LDH-A) and the presence of HC 11 in somatic cell hybrids. Radioactively labelled globin complementary DNA (cDNA) probes were used in molecular hybridisation experiments to determine the chromosomal locations of the alpha- and beta-globin genes. When human x 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 possible. We have regionally localised the human beta-globin gene using two sets of hybrid cell lines: (1) Chinese hamster x human hybrid cells containing the HC 11 long arm or both the short and long arms and (2) mouse x human hybrids containing only the HC 11 short arm. The techniques of liquid molecular hybridisation and Southern blotting with 32P-labelled human beta-globin cDNA (from plasmid JW102) have been used to localise the beta-globin gene sequence to region 11p11 leads to 11p15. Similar results were reported recently by Jeffreys et al.