Inherited Structural Variation and Linkage Relationships of C7

Hobart, M. J.; Joysey, V.; Lachmann, P. J.

doi:10.1111/j.1744-313x.1978.tb00641.x

Cited by 90 publications

(63 citation statements)

References 18 publications

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“…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: 49%

“…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%

“…Genetic polymorphism of human C7 was first described by Hobart et al (1978) in a Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

“…It has been suggested that C7"3 is a 'hypomorphic' variant: Hobart et al (1978), who revealed the C7 phenotypes by isoelectric focusing and a functional hemolytic detection, reported that the C7 3 bands are usually weaker than the common C7 1 bands. 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: 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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Section: Discussionsupporting

confidence: 49%

Section: Introductionmentioning

confidence: 99%

“…Genetic polymorphism of human C7 was first described by Hobart et al (1978) in a Caucasian population.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Human C7 polymorphism: Quantitative analysis of different phenotypes

et al. 1988

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“…The close linkage between C6 and C7 loci has been confirmed (Hobart et al, 1978;Tokunaga et al, 1986). A genetic study of structural variants of the seventh component of human complement (C7) was first carried out by Hobart et al (1978), using polyacrylamide gel isoelectric focusing followed by functional detection.…”

Section: Introductionmentioning

confidence: 79%

Genetic polymorphisms of complement C6 and C7 in two Chinese populations

et al. 1986

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SummaryGenetic polymorphisms of the complement components C6 and C7 in two Chinese populations (Beijing and Guangzhou) were investigated, using isoelectric focusing and immunoblotting technique. Three common and four rare allotypes of C6 were observed, and one of the rare allotypes was considered to be a new variant. Ten different patterns of C7 observed were classified into three homozygous and seven heterozygous phenotypes, indicating occurrence of four common and a new variant alleles. The new variants of C6 and C7 detected were designated as C6 B21 and C7 6, respectively. There was no statistically significant difference for C6 and C7 allele frequencies between the Beijing and the Guangzhou populations except for C7"4. The C7"4 frequency was shown to be significantly higher in Beijing than in Guangzhou. No significant positive association between C6 and C7 alleles was found.

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Survey of seven plasma protein polymorphisms in the Amhara and Oromo populations of Ethiopia

Scacchi¹,

Rm²,

Rickards

et al. 1994

American J Hum Biol

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The Ethiopian population is very difficult to specify due to a very high degree of intermixing among different peoples. The two groups of the present study, the Amhara and Oromo, constitute 38% and 35% of the population, respectively. In order to investigate the genetic composition of the Amhara and Oromo, genetic polymorphisms of seven plasma proteins (F13A, F13B, ORM1, AHSG, C6, C7, and APOC2), already identified as useful anthropological markers, were studied. No statistically relevant differences were found between the two groups for all of the systems examined. ORM1 and F13A showed frequencies in the range observed in other populations of Caucasoid and Negroid origin. F13B, AHSG, and C6 displayed gene frequencies and a number of variant alleles that seem particular to these two groups. No variation was observed for C7 and APOC2. Correspondence and distance analyses were used to interpret and compare the gene frequencies of the Amhara and Oromo with those of other related populations. These methods locate Ethiopians in an intermediate position between African Blacks and a group of Caucasoid populations, confirming cultural and historical data. © 1994 Wiley-Liss, Inc.

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Inherited Structural Variation and Linkage Relationships of C7

Abstract: SUMMARY Three structural forms of C7 have been distinguished by isoelectric focusing. They are the products of three co‐dominantly expressed alleles at an autosomal locus. The C7 locus is close to that for C6, but is not close to the HLA complex.

Cited by 90 publications

References 18 publications

Human C7 polymorphism: Quantitative analysis of different phenotypes

Human C7 polymorphism: Quantitative analysis of different phenotypes

Genetic polymorphisms of complement C6 and C7 in two Chinese populations

Survey of seven plasma protein polymorphisms in the Amhara and Oromo populations of Ethiopia

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