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  • Title: Molecular defects leading to human complement component C6 deficiency in an African-American family.
    Author: Zhu ZB, Totemchokchyakarn K, Atkinson TP, Volanakis JE.
    Journal: Clin Exp Immunol; 1998 Jan; 111(1):91-6. PubMed ID: 9472666.
    Abstract:
    Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father.
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