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Article

A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans.

Journal of immunology (Baltimore, Md. : 1950) - 15 Sept 2020

Densen Peter, Ackermann Laynez, Saucedo Leslie, Figueroa Julio E, Si Zhi-Hai, Stoltzfus Conrad Martin

Abstract excerpt

C8α-γ deficiency was examined in four unrelated African Americans. Two individuals were compound heterozygotes for a previously reported point mutation in exon 9. mRNA from the remaining six C8A alleles contained a 10 nt insertion between nt 992 and 993 corresponding to the junction between exons 6 and 7. This suggested that C8α-γ deficiency in these individuals was caused by a splicing defect. Genomic sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32769119
DOI: 10.4049/jimmunol.2000272
PMCID: PMC7484158

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