Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C7

The C7 gene encodes a complement component involved in the membrane attack complex. Mutations cause complement C7 deficiency which may result in immunological abnormalities, predisposition to meningococcal infections in aprticular.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Complement C7 deficiency
C7
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

References:

1.

Coto E et. al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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2.

Hobart MJ et. al. (1978) Inherited structural variation and linkage relationships of C7.

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3.

Jeremiah SJ et. al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

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4.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

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5.

Eldridge PR et. al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

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6.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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7.

Fernie BA et. al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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8.

Würzner R et. al. (1992) A novel protein polymorphism of human complement C7 detected by a monoclonal antibody.

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9.

Würzner R et. al. (1990) C7*9, a new frequent C7 allele detected by an allotype-specific monoclonal antibody.

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10.

DiScipio RG et. al. (1988) The structure of human complement component C7 and the C5b-7 complex.

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11.

Nishimukai H et. al. (1986) Genetic polymorphism of the seventh component of complement: a new variant.

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12.

Nakamura S et. al. (1984) Genetic polymorphism of the seventh component of complement in a Japanese population.

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13.

Hobart MJ et. al. (1995) Structure of the human C7 gene and comparison with the C6, C8A, C8B, and C9 genes.

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14.

Nishizaka H et. al. (1996) Genetic bases of human complement C7 deficiency.

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15.

Fernie BA et. al. (1997) Molecular bases of C7 deficiency: three different defects.

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16.

Fernie BA et. al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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17.

Barroso S et. al. (2004) Complement component C7 deficiency in two Spanish families.

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18.

Barroso S et. al. (2006) Molecular defects of the C7 gene in two patients with complement C7 deficiency.

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Update: Sept. 26, 2018