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Defining the breakpoint of a multigene deletion in the immunoglobulin heavy chain gene cluster

✍ Scribed by Zhi-Qiing Chen; Marten H. Hofker; Diane W. Cox

Publisher: Springer-Verlag
Year: 1995
Tongue: English
Weight: 455 KB
Volume: 41
Category: Article
ISSN: 0093-7711
DOI: 10.1007/bf00182315

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✦ Synopsis

The constant region of the human immunoglobulin heavy chain (IGHC) is encoded by a cluster of genes near the telomere of chromosome 14q. Deletions and duplications of single or multiple genes in the cluster have been identified, but little information about the breakpoint junctions has been available, in part due to the high degree of sequence similarity between the genes in this region. We report an intensive study of a homozygous deletion, using Southern hybridization and polymerase chain reaction techniques. We found that the deleted DNA includes the functional epsilon gene, and that the breakpoints are located within a 2 kilobase Barn HI~Sac I region of both the IGHEP1 and IGHE genes. These results revise a previous conclusion regarding the deleted region. Definition of breakpoints occurring within this cluster may shed light on recombination mechanisms.

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