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P. Potter, C. Warburton, R. Würzner, A. Orren, R. Scipio (1993)
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The C8A and C8B loci are closely linked on chromosome 1Annals of Human Genetics, 50
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DNA sequence variants in the ‘ y
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The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.Journal of Medical Genetics, 28
R. Würzner, A. Orren, P. Potter, B. Morgan, D. Ponard, P. Späth, M. Brai, M. Schulze, L. Happe, O. Götze (1991)
Functionally active complement proteins C6 and C7 detected in C6‐ and C7‐deficient individualsClinical & Experimental Immunology, 83
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The C7 M/N polymorphism is determined by a neutral amino acid substitution outside the epitope of the allospecific monoclonal antibody WU 4-15Molecular Immunology, 30
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S. Jeremiah, C. Abbott, Z. Murad, S. Povey, H. Thomas, E. Solomon, R. Discipio, G. Fey (1990)
The assignment of the genes coding for human complement components C6 and C7 to chromosome 5Annals of Human Genetics, 54
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The C 8 A and C 8 B loci are closelg linked on chromosome 1
Both complete C6‐deficiency (C6*Q0) and subtotal C6‐deficiency (C6*SD) have been described as simple recessive traits and C6*SD has been described in combination with subtotal deficiency of the C7 coded at an adjacent locus. The trace of C6 protein found in both C6*SD traits is phenotypically indistinguishable, being smaller than normal C6 and having different isoelectric properties. A defect has been found in the C6 gene which plausibly explains the C6*SD phenotype, and this defect is also common to both C6*SD traits. We present data from seven DNA markers of the C6 and C7 genes which show that although at least four haplotypes are associated with C6*Q0, most South African C6*Q0 patients carry a common defective haplotype. The most common haplotype associated with C6*Q0 has been observed only once among unaffected haplotypes of relatives. In one family, the cases of C6*SD share a complete haplotype with both cases of combined deficiency and are probably heterozygous for this condition and complete deficiency of C6. In another family, the C6*SD is on a slightly different haplotype and C7 is normally expressed. Thus, the C6 defect is not sufficient on its own to explain the C7 deficiency in the combined deficient haplotype. The haplotype associated with the combined deficiency is found not only in normal control subjects, but also in one case of complete C6 deficiency. In this case the molecular defect seen in combined or C6*SD cases is absent.
Annals of Human Genetics – Wiley
Published: Jan 1, 1995
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