AI Article Synopsis
- The study analyzed restriction fragment length polymorphisms (RFLPs) in switch region genes related to IgM and IgA1 heavy chains among 78 Japanese children with IgA nephropathy and 88 normal controls.
- The methodology involved digesting genomic DNA with SacI and using a Southern blot technique that hybridized a specific DNA probe to detect RFLPs.
- Findings indicated that while the genotypic frequencies in patients were similar to controls, specific genotypes were associated with the severity of the disease, particularly a lower frequency of the 2.6/2.1 kb S mu heterozygous genotype in patients with more severe forms of IgA nephropathy.
Article Abstract
We examined restriction fragment length polymorphisms (RFLPs) of the switch region genes of the IgM (S mu) and IgA1 (S alpha 1) heavy chain in 78 Japanese children with IgA nephropathy and 88 normal Japanese controls. Genomic DNA obtained from patients and controls was digested with the restriction endonuclease SacI, transferred to nylon membrane using Southern blot procedure, and hybridized with a DNA probe homologous to S mu. This probe detects RFLPs at the S mu and S alpha 1 loci by enhanced chemiluminescence. The genotypic frequency of the S mu and S alpha 1 alleles in patients with IgA nephropathy was similar to normal controls. However, there was a significant association of genotypes with the pathological severity. There was a decreased frequency of the 2.6/2.1 kb S mu heterozygous genotype in patients showing diffuse mesangial proliferation compared to controls or patients showing minimal or focal mesangial proliferation. Our results suggest that immunoglobulin heavy chain switch region genes may not influence susceptibility to IgA nephropathy in children, but may influence the pathological expression of childhood IgA nephropathy.
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