PubMed:9472666 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9472666","sourcedb":"PubMed","sourceid":"9472666","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9472666","text":"Molecular defects leading to human complement component C6 deficiency in an African-American family.\nComplement 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 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