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DNA polymorphism of the C2 locus.
The extent of the C2 locus in the HLA class III region has been determined by Southern blotting techniques and by DNA sequence analysis. The gene is 18 kb in length and therefore provides a marked contrast to the adjacent factor B gene of 6 kb. A novel restriction fragment length polymorphism (RFLP) has been identified using the endonuclease Sst I and a genomic probe derived from the 5' region of the C2 gene. Four variants have been detected in a sample of unrelated individuals with haplotypes carrying the C2C allele. Further analysis using C2 and factor B cDNA probes has determined the relationship between this and the other RFLPs previously identified in this region of the genome. Together, the three polymorphisms identified so far make the subdivision of previously indistinguishable haplotypes possible. They therefore constitute a series of markers which increase the resolution of genetic variation in the C2 locus and they may be important in studies of diseases associated with this region of the major histocompatibility complex.
PMID: 2997031 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Primary structure of human complement component C2. Homology to two unrelated protein families.
Bentley DR.
Biochem J. 1986 Oct 15; 239(2):339-45.
[Biochem J. 1986]
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Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.
Schaffer FM, Palermos J, Zhu ZB, Barger BO, Cooper MD, Volanakis JE.
Proc Natl Acad Sci U S A. 1989 Oct; 86(20):8015-9.
[Proc Natl Acad Sci U S A. 1989]
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Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.
Yu CY, Belt KT, Giles CM, Campbell RD, Porter RR.
EMBO J. 1986 Nov; 5(11):2873-81.
[EMBO J. 1986]
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