作者: Rick A. Wetsel , Judit Kulics , Marja-Liisa Lokki , Photini Kiepiela , Hideto Akama
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摘要: Type II complement protein C2 deficiency is characterized by a selective block in secretion. The null allele (C2Q0) linked to two major histocompatibility haplotypes (MHC) that differ from the MHC of more common I deficiency. To determine molecular basis C2Q0 genes were isolated and transfected separately into L-cells. Subsequent biology, biosynthetic, immunofluorescence studies demonstrated secretion impaired because different missense mutations at highly conserved residues each alleles. One exon 5 (nucleotide C566 →T; Ser189 →Phe) gene haplotype A11,B35,DRw1,BFS, C4A0B1. other 11 (G1930 →A; Gly444 →Arg) A2,B5, DRw4,BFS,C4A3B1. Each mutant product retained early secretory pathway. These mutants provide models for elucidating