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

• 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
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050470

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.