New types of multiple and single gene deletions in the human IgCH locus.

Abstract:

:The locus for human immunoglobulin heavy chain constant region genes (IgCH) is characterized by a significant frequency of deleted or duplicated haplotypes, due to unequal crossing-over events. Four types of deletions and one duplication have been reported so far. We describe here a molecular study of four cases of IgCH deletions. Two of the three types of deletions are reported here for the first time. Analysis of genetic markers associated with the deleted haplotypes pointed to the independent origin of similar deletions and the involvement of intergenic sequences in the mispairing-recombination process. The reduced or absent transcription of the C gamma 4 gene in two C gamma 2-deleted haplotypes offers an insight into the requirements for the isotype switch mechanism.

journal_name

Immunogenetics

journal_title

Immunogenetics

authors

Bottaro A,De Marchi M,De Lange G,Boccazzi C,Caldesi F,Gallina R,Carbonara AO

doi

10.1007/BF02341612

subject

Has Abstract

pub_date

1989-01-01 00:00:00

pages

44-8

issue

1

eissn

0093-7711

issn

1432-1211

journal_volume

29

pub_type

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