1995
DOI: 10.1007/bf00225201
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Variability of the immunoglobulin heavy chain constant region locus: a population study

Abstract: The Immunoglobulin Heavy chain Constant region (IGHC) locus is a multigene family composed of highly homologous segments often involved in unequal crossings over that lead to deleted and duplicated haplotypes. The frequencies of these haplotypes in 558 individuals from Lombardy, Veneto, Puglia and Sardinia were determined by Pulsed Field Gel Electrophoresis (PFGE), followed by Southern blotting with four IGHC probes, and compared with those observed in 110 subjects from Piedmont. Twenty deletions and 60 duplic… Show more

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Cited by 27 publications
(19 citation statements)
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“…Allelic deletions and duplications involving one or more genes were exhaustively studied in the Ig heavy chain constant region. [44][45][46][47][48][49] However, because of the high degree of diversity of IGHV region, studying large polymorphisms is very difficult. Our approach provides an effective method of searching for these polymorphisms, especially, those with a low frequency for the minor alleles.…”
Section: Discussionmentioning
confidence: 99%
“…Allelic deletions and duplications involving one or more genes were exhaustively studied in the Ig heavy chain constant region. [44][45][46][47][48][49] However, because of the high degree of diversity of IGHV region, studying large polymorphisms is very difficult. Our approach provides an effective method of searching for these polymorphisms, especially, those with a low frequency for the minor alleles.…”
Section: Discussionmentioning
confidence: 99%
“…Three were G2m(n+) and three G2m(n-). These subjects were found during a population survey of the frequency of the duplicated and deleted haplotypes of the IgHC locus in different regions of Italy (Brusco et al 1995 x Denhardt's solution and 0.1% sodium dodecyl sulphate (SDS), the labeled oligonucleotide was added to the hybridization buffer and the filters were incubated for 3 h at 53 °C, washed for 30' at the same temperature in 50 mM Tris-HC1, 3M TMAC, 2 mM EDTA, and 0.1% SDS, and exposed to MP Hyperfilms.…”
Section: Subjectsmentioning
confidence: 99%
“…The genetic and physical map of the IGHC locus is well established (Bottaro et al 1989a;Hofker et al 1989); the entire complex spans a MluI fragment of 350 kb, as measured by pulsed field gel electrophoresis (PFGE) (Hofker et al 1989). Size variations of this fragment are observed in deletions and duplications of the IGHC locus (Lefranc et al 1982(Lefranc et al , 1983Migone et al 1984;Bech-Hansen and Cox 1986;Bottaro et al 1989bBottaro et al , c, 1990Bottaro et al , 1991Hendriks et al 1989;Smith et al 1989;Walter et al 1990;Olsson et al 1991Olsson et al , 1993Brusco et al 1994Brusco et al , 1995Wiebe et al 1994). Ten types of deletions and seven duplications involving one or more genes have been described so far, the most common deleted or duplicated haplotypes involve the genes from A1 to E, and from GP to A2.…”
Section: Introductionmentioning
confidence: 99%
“…Ten types of deletions and seven duplications involving one or more genes have been described so far, the most common deleted or duplicated haplotypes involve the genes from A1 to E, and from GP to A2. Depending on the number of genes involved, the size variation ranges from ± 20 to ± 150 kb (Bottaro et al 1991;Olsson et al 1993;Brusco et al 1995), and up to + 300 kb in haplotypes carrying a triplication of the A1-E region (Brusco et al1994).…”
Section: Introductionmentioning
confidence: 99%