Simultaneous detection of ACP1 and GC genotypes using PCR/SSCP.

The classical enzyme and protein markers ACP1 and GC have gained new importance because of the biological functions of their gene products. ACP1 encodes a low molecular weight enzyme which is now recognized as a phosphotyrosine phosphatase with a role in the regulation of signal transduction pathways, and GC-globulin acts both as a transporter of vitamin D and as a plasma actin scavenger and plays a role in macrophage activation. These two polymorphisms were phenotyped for decades on the basis of electrophoretic isozyme or protein patterns; the gene structures are now known.

Plasma vitamin D-binding protein (GC) factors, immunoglobulin G heavy chain (GM) allotypes and immunoglobulin kappa light chain (KM1) allotype in patients with sarcoidosis and in healthy control subjects.

Background And Aim: Sarcoidosis is an immune disease with abnormalities in the production of vitamin D and immunoglobulins. The aim was to examine whether the distribution of plasma vitamin D-binding protein = group-specific component (GC) allotypes, immunoglobulin G heavy chain (GM) allotypes and immunoglobulin kappa light chain (KM) allotype differed significantly from the distribution in healthy subjects.

Methods: GC 1S, 1F, 2 allotypes, GM 1, 2, 5 allotypes, and KM1 allotype were assessed in 44 patients with sarcoidosis and in healthy control subjects.

Vitamin D3 metabolism in patients with rheumatic diseases: low serum levels of 25-hydroxyvitamin D3 in patients with systemic lupus erythematosus.

1,25-dihydroxyvitamin D3 (1,25(OH)2 D3) has been shown to modulate lymphocyte activation in vitro. Through binding to specific receptors 1,25-(OH)2 D3 inhibits proliferation, immunoglobulin production and the release of cytokines. Moreover, 1,25-(OH)2 D3 is efficiently produced by activated monocytes.

Group specific component in serum and otosclerosis: no association.

An earlier Swedish study suggested a positive association between otosclerosis and the group-specific component GC*1F marker. We investigated the distribution of GC subtypes in 101 Danish patients with otosclerosis who all had surgery performed in the county of Funen. Compared to 1674 Danish controls we found no evidence of any association between markers from the GC serum protein system and otosclerosis.

Analysis of the locus D1S80 by amplified fragment length polymorphism technique (AMP-FLP). Frequency distribution in Danes. Intra and inter laboratory reproducibility of the technique.

DNA from the locus D1S80 was amplified by polymerase chain reaction (PCR) and analyzed by electrophoresis in vertical polyacrylamide gels followed by silverstaining. DNA samples from 119 unrelated Danes and 97 mother/child pairs were examined. The amplified fragment length polymorphism (AMP-FLP) analysis of the D1S80 locus demonstrated 21 alleles and a heterozygosity of 77%.