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DNA polymorphism of the C2 locus.

D R Bentley, R D Campbell, S J Cross

|January 1, 1985

Summary

Researchers mapped the C2 gene in the HLA class III region, finding it 18 kb long. A new RFLP marker was discovered, improving genetic variation analysis in this crucial genomic area.

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Area of Science:

Genetics
Molecular Biology
Immunogenetics

Background:

The Human Leukocyte Antigen (HLA) class III region is a gene-rich area with significant implications for immune response and disease susceptibility.
Understanding the genetic structure and variation within the HLA class III region, specifically the C2 locus, is crucial for dissecting complex genetic traits and diseases.

Purpose of the Study:

To determine the precise extent of the C2 gene within the HLA class III region.
To identify and characterize novel genetic markers within the C2 locus to enhance genetic mapping resolution.
To investigate the relationship between newly identified and previously known restriction fragment length polymorphisms (RFLPs) in the C2 region.

Main Methods:

Southern blotting techniques were employed to analyze DNA.
DNA sequence analysis was utilized to determine gene structure and boundaries.
Restriction fragment length polymorphism (RFLP) analysis was performed using specific endonucleases (Sst I) and genomic probes derived from the C2 gene.
Complementary DNA (cDNA) probes for C2 and factor B were used for comparative analysis.

Main Results:

The C2 gene was determined to be 18 kb in length, significantly larger than the adjacent 6 kb factor B gene.
A novel Sst I RFLP was identified in the 5' region of the C2 gene.
Four distinct variants of this novel RFLP were detected in unrelated individuals carrying the C2C allele.
Integration of this new RFLP with previously identified polymorphisms allowed for the subdivision of previously indistinguishable haplotypes.

Conclusions:

The identified novel RFLP significantly increases the resolution of genetic variation analysis at the C2 locus.
These RFLPs serve as valuable genetic markers for subdividing haplotypes and improving genetic mapping within the HLA class III region.
The enhanced resolution of genetic variation in the C2 locus may prove important for future studies of diseases associated with this region of the major histocompatibility complex.

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