Molecular defects leading to human complement component C6 deficiency in an African-American family

Clinical and Experimental Immunology

Volumn 111, Issue 1, 1998, Pages 91-96

  Zhu, Z B ^b   Totemchokchyakarn, K ^b   Atkinson, T P ^a   Volanakis, John E ^b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b The University of Alabama at Birmingham   (United States)

Author keywords

Allele specific; Complement deficiency; Conformation; Gene mutation; Neisseria meningitidis; PCR; Polymorphism; Single strand

Indexed keywords

COMPLEMENT COMPONENT C6;

ADOLESCENT; ARTICLE; CASE REPORT; COMPLEMENT DEFICIENCY; EPIDEMIC MENINGITIS; EXON; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MENINGOCOCCOSIS; NEGRO; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; CHILD; COMPLEMENT C6; FEMALE; HUMANS; MALE; MENINGITIS, MENINGOCOCCAL; MUTATION; NEISSERIA MENINGITIDIS; PEDIGREE;

EID: 0031881824     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.1998.00455.x     Document Type: Article

References (26)

1. DiScipio RG, Gagnon J. Characterization of human complement components C6 and C7. Mol Immunol 1982; 19:1425-31.
2. Haefliger JA, Tschopp J, Vial N, Jenne DE. Complete primary structure and functional characterisation of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6. J Biol Chem 1989; 264:18041-51.
3. DiScipio RG, Hugli TE. The molecular architecture of human complement component C6. J Biol Chem 1989; 264:16197-206.
4. Hobart MJ, Femie BA, DiScipio RG, Lachmann PJ. A physical map of the C6 and C7 complement component gene region on chromosome 5p13. Hum Mol Genet 1993; 2:1035-6.
5. Setién F, Alvarez V, Goto E, DiScipio RG, López-Larrea C. A physical map of the human complement component, C6, C7, and C9 genes. Immunogenetics 1993; 38:341-4.
6. Hobart MJ, Fernie B, DiScipio RG. Structure of the human C6 gene. Biochemistry 1993; 32:6198-205.
7. Müller-Eberhard HJ. The membrane attack complex of complement. Annu Rev Immunol 1986; 4:503-28.
8. Esser AF. Big MAC attack: complement proteins cause leaky patches. Immunol Today 1991; 12:316-8.
9. Bhakdi S, Tranum-Jensen J. Complement lysis: a hole is a hole, Immunol Today 1991; 12:318-20.
10. Dankert JR, Esser AF. Complement-mediated killing of Escherichia coli: dissipation of membrane potential by a C9-derived peptide. Biochemistry 1986; 25:1094-100.
11. Nicholson A, Lepow IH. Host defense against Neisseria meningitidis requires a complement-dependent bactericidal activity. Science 1979; 205:298-9.
12. Colten HR, Rosen FS. Complement deliciencies. Annu Rev Immunol 1992; 10:809-34.
13. Inai S, Akagaki Y, Moriyama T, Fukumori Y, Yoshimura K, Ohnoki S, Yamaguchi H. Inherited deficiencies of the late-acting complement components other than C9 found among healthy blood donors. Int Arch Allergy Appl Immunol 1989; 90:274-9.
14. Ross SC, Densen P. Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine 1984; 63:243-73.
15. Ellison III RT, Kohler PF, Curd JG, Judson FN, Reller LB. Prevalence of congenital or acquired complement deficiency in patients with sporadic meningococcal disease. N Engl J Med 1983; 308:913-6.
16. Lee TJ, Snyderman R, Patterson J, Rauchbach AS, Folds JD, Yount WJ. Neisseria meningitidis bacteremia in association with deficiency of the sixth component of complement. Infect Immun 1979; 24:656-60.
17. Orren A, Potter PC, Cooper RC, Du Toit E. Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases. Immunology 1987; 62:249-53.
18. Nishizuka H, Horiuchi T, Zhu ZB et al. Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. J Immunol 1996; 156:2309-15.
19. Oglesby TJ, Ueda A, Volanakis JE. Radioassays for quantitation of intact complement proteins C2 and B in human serum. J Immunol Methods 1988; 110:55-62.
20. Sykes BC. DNA in heritable disease. Lancet 1983; 11:787-8.
21. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 1977; 74:5463-7.
22. Tabor S, Richardson CC. DNA sequence analysis with a modified bacteriophage T7 DNA polymerase. Proc Natl Acad Sci LISA 1987; 84:4767-71.
23. Sarkar G, Cassady J, Bottema CDK, Sommer SS. Characterisation of polymerase chain reaction amplification of specific alleles. Anal Biochem 1990; 186:64-68.
24. Dewald G, Nöthen MM, Cichon S. Polymorphism of human complement component C6: an amino acid substitution (Glu/Ala) within the second thrombospondin repeat differentiates between the two common allotypes C6A and C6B. Biochem Biophys Res Commun 1993; 194:458-64.
25. Fernie BA, Delbridge G, Hobart MJ. Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes. Hum Mol Genet 1993; 2:591-2.
26. Lim D, Gewurz A, Lint TF, Ghaze M, Sepheri B, Gewurz H. Absence of the sixth component of complement in a patient with repeated episodes of meningococcal meningitis. J Pediatr 1976; 89:42-47.