A novel type II complement C2 deficiency allele in an African-American family.

Article

A novel type II complement C2 deficiency allele in an African-American family.

Journal of immunology (Baltimore, Md. : 1950) - 15 Jul 1998

Zhu Z B, Atkinson T P, Volanakis J E

Abstract excerpt

A 9-yr-old African-American male presenting with severe recurrent pyogenic infections was found to have C2 deficiency (C2D). Analysis of his genomic DNA demonstrated that he carried one type I C2D allele associated with the HLA-A25, B18, DR15 haplotype. Screening all 18 exons of the C2 gene by ex...

Topics

Alleles
Amino Acid Substitution
Black People
Child
Complement C2
Cysteine
Exons
Glycine
Humans
Male
Mutation
Pedigree
Polymorphism, Genetic
Protein Biosynthesis
Tyrosine
Black or African American

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