Human C7 polymorphism: Classification and association analysis with C6

Washio, Keiko; Tokunaga, Katsushi; Omoto, Keiichi; Misawa, Shogo

doi:10.1007/bf01907934

Cited by 10 publications

(19 citation statements)

References 16 publications

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“…A similar observation was made by Nishimukai and Tamaki (1986) and Washio et al (1986) using an immunoblotting procedure for the detection of C7 banding patterns.…”

Section: Introductionsupporting

confidence: 75%

“…Previous studies on C7 polymorphism suggested that C7 3 might be a 'hypomorphic' variant (Hobart et al, 1978;Nishimukai and Tamaki 1986;Washio et al, 1986). Our present investigation demonstrates that both the immunochemical and functional C7 levels for C7 3-1 are lower than those for the other common phenotypes.…”

Section: Discussionsupporting

confidence: 48%

“…Typing for C7 was performed as described previously (Washio et al, 1986). Briefly, after treatment with neuraminidase, desialized serum samples were subjected to isoelectric focusing in thin layer polyacrylamide gels followed by an immunoblotting procedure.…”

Section: Methodsmentioning

confidence: 99%

“…at polymorphic frequencies Washio et aI., 1986); the C7"5 described by Nishimukai and Tarnaki (1986) corresponds to C7"3 (Washio et al, 1986).…”

Section: Introductionmentioning

confidence: 97%

“…Moreover, two rare variants have been reported, one in a Chinese individual (Zeng et al, 1986), and the other in a Japanese individual (Washio et al, 1986). It is interesting that both C6 (the sixth component of complement) and C7, which are tightly linked each other (Hobart et al, 1978;Tokunaga et al, 1986), show a higher degree of polymorphisms in East Asian populations than in Caucasians.…”

Section: Introductionmentioning

confidence: 99%

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Human C7 polymorphism: Quantitative analysis of different phenotypes

et al. 1988

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SummaryC7 polymorphism was investigated in a Japanese population (Tokyo). The C7 protein concentrations and hemolytic C7 activities in the serum samples of various phenotypes were measured by radial immunodiffusion (RID) and radial diffusion hemolysis (RDH). The mean C7 protein levels for the common phenotypes C7 1, C7 2-1, C7 3-1, and C7 4-1 were 88~, 103~, 63~, and 94~ of a standard, while the mean C7 activity levels were 96~, 90~, 63~, and 74~, respectively. Both the protein and the activity levels for C7 3-1 were significantly lower than those determined for the most common phenotype C7 1. The mean levels in two individuals of C7 3 phenotype were only 34~ in protein concentration and 47~ in functional activity. Concerning the ratio of functional to immunochemical C7 (i.e. the relative specific activity), there was no difference between the phenotypes C7 1 and C7 3-1. On the other hand, the mean hemolytic activity and the relative specific activity for C7 4-1 were significantly lower than those for C7 1.

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“…A similar observation was made by Nishimukai and Tamaki (1986) and Washio et al (1986) using an immunoblotting procedure for the detection of C7 banding patterns.…”

Section: Introductionsupporting

confidence: 75%

Section: Discussionsupporting

confidence: 48%

Section: Methodsmentioning

confidence: 99%

“…at polymorphic frequencies Washio et aI., 1986); the C7"5 described by Nishimukai and Tarnaki (1986) corresponds to C7"3 (Washio et al, 1986).…”

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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Human C7 polymorphism: Quantitative analysis of different phenotypes

et al. 1988

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A novel protein polymorphism of human complement C7 detected by a monoclonal antibody

et al. 1992

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Genetic polymorphism of the human terminal complement component C7 has been studied by means of polyacrylamide gel isoelectric focussing (IEF) followed by hemolytic overlay or by immunoblotting. In Caucasians only one common allele (C7"1) with a gene frequency of 0.99 has been described, whereas in the Far East three additional common C7 allele (frequencies of 0.04-0.10) and a few very rare alleles have been reported, as reviewed (W~irzner et al. 1990b). In addition to this protein polymorphism0 a DNA polymorphism based on the restriction enzyme Taq I has been described (Coto et al. 1990).Two sandwich enzyme-linked immunosorbent assays (ELISAs) for the quantitation of human C7 have been published recently (Wfirzner et al. 1990b). One is based on a mouse monoclonal antibody (mAb), WU 4-15, the other is based on a polyclonal C7-specific IgG, as coating antibodies for ELISA-M (monoclonal) or ELISA-P (polyclonal), respectively. After introducing human sera in 1:2500 dilutions to the coated wells, the bound C7 was detected using biotinylated C7-specific IgG followed by horseradish peroxidase-labeled streptavidin and the substrate ABTS. The quantitation of C7 in 284 Caucasian individuals revealed three different ELISA patterns, namely identical results in both ELISAs, one-half or very low concentrations when ELISA-M results were compared with ELISA-P results obtained from the same sample. Comparison of these ELISA-M/ELISA-P ratios as well as results from IEF and immunoblotting, where three different staining intensities were detected using this mAb, revealed that the mAb is directed to an electrically neutral allotypic epitope on C7 (Wtirzner et al. 1990b). Since the findings conform to the Hardy-Weinberg

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Genetic polymorphisms of complement components C6 and C7 in Korean

Park¹,

Yanagisawa

Tokunaga

et al. 1988

Jap J Human Genet

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SummaryGenetic polymorphisms of the complement components C6 and C7 were investigated in Korean living in Seoul using isoelectric focusing and immunoblotting. Three common and four rare C6 allotypes were observed. The allele frequencies estimated were as follows: C6*A 0.433, C6*B 0.523, C6"B2 0.039, and rare alleles (M91, M92, M11 and M2) 0.005. Three C7 variants, besides a common allele, were observed with polymorphic frequencies. Two rare C7 variants, considered to be new, were also observed. The allele frequencies estimated for C7"1, C7"2, C7"3, C7"4, and rare variants (tentatively named K1 and K2) were 0.843, 0.073, 0.034, 0.048 and 0.002, respectively. The C6 and C7 allele frequencies are similar to those in Japanese and Chinese. The association analysis between C6 and C7 showed a significant negative association between C6 B and C7 4 allotypes (p < 0.02).

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Human C7 polymorphism: Classification and association analysis with C6

Cited by 10 publications

References 16 publications

Human C7 polymorphism: Quantitative analysis of different phenotypes

Human C7 polymorphism: Quantitative analysis of different phenotypes

A novel protein polymorphism of human complement C7 detected by a monoclonal antibody

Genetic polymorphisms of complement components C6 and C7 in Korean

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