The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes

The structure of the human immunoglobulin heavy chain constant region (IGHC), on chromosome 14q32, comprises nine CH genes and two pseudogenes, all originating from multiple duplication events. Continuing evolution of the region is demonstrated by the finding of various types of duplicated and delet...

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Bibliographic Details
Published in:Human genetics 1997-07, Vol.100 (1), p.84-89
Main Authors: BRUSCO, A, CINQUE, F, SAVIOZZI, S, BOCCAZZI, C, DEMARCHI, M, CARBONARA, A. O
Format: Article
Language:English
Subjects:
Biological and medical sciences
Blotting, Southern
Chromosomes, Human, Pair 14 - genetics
Classical genetics, quantitative genetics, hybrids
Cloning, Molecular
Electrophoresis, Gel, Pulsed-Field
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genes, Immunoglobulin
Genetics of eukaryotes. Biological and molecular evolution
Haplotypes
Human
Humans
Immunoglobulin Constant Regions - genetics
Immunoglobulin Heavy Chains - genetics
Italy
Molecular Sequence Data
Multigene Family
Polymerase Chain Reaction
Polymorphism, Genetic
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Summary:The structure of the human immunoglobulin heavy chain constant region (IGHC), on chromosome 14q32, comprises nine CH genes and two pseudogenes, all originating from multiple duplication events. Continuing evolution of the region is demonstrated by the finding of various types of duplicated and deleted haplotypes, which together add up to 6%. Here we provide molecular and genetic evidence that the G4 gene is duplicated in 44% of IGHC haplotypes in the Italian population. The duplication spans about 20 kb of genomic DNA and probably originated through unequal crossing over. Refined characterisation of the genomic region downstream from the G4 gene improves our knowledge of the evolutionary history of CH genes.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050470