Chromosomal localization of human β globin gene on human chromosome 11 in somatic cell hybrids

Abstract

We have successfully used a DNA-cDNA molecular hybridization assay to directly determine the presence or absence of human 13 globin gene sequences in 20 humanmouse somatic cell hybrids, each of which contained a different subset of human chromosomes. The assay is specific for the individual human globin genes and will detect

-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

“…12 The b-globin gene was one of the first to be cloned and the corresponding protein crystallized. 13,14 The b-globin gene has also been much used to study RNA transcription and processing, while mutations in the b-globin gene have provided invaluable information to further characterize these processes and associated mechanisms, such as nonsense-mediated RNA decay.…”

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

“…The human ,B-globin gene cluster lies on the short arm of chromosome 11 (1,2) in the order _ (3). Many different DNA deletions, varying in length from a single nucleotide to thousands of base pairs, affect the globin genes (4).…”

The duplicated human alpha globin genes lie close together in cellular DNA.

“…However, in one form, Hb H disease, which is-the consequence of a globin synthesis equivalent to that produced by a single normal a gene, deletion of three of the four normal a loci may not always occur. Indeed, poorly functional a loci, perhaps analogous to defective (3 …”

“…Genetic studies of variant hemoglobins have provided information regarding the number and linkage relationships of the structural genes for these globins. The dl and 6 loci are present as single copies per haploid genetic complement and are genetically linked to one another and to duplicated y loci on a single chromosome recently proposed to be number 11 (3). Most evidence favors duplication of a loci, which are unlinked to the non-a genes, and assigned to chromosome-16 (4)(5)(6)(7).…”