From the serological screening for complement component deficiencies, we found 2 subjects with inherited C5 deficiency (C5D), 4 with C6D, 6 with C7D, 4 with C81 (alpha-gamma subunit) D and 138 with C9D among 145,640 healthy Japanese blood donors. Recently, the genetic bases of some of the C6D, C7D, C81D and C9D Japanese individuals were elucidated using an exon-specific PCR-SSCP method followed by direct sequencing of the target exons.

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http://dx.doi.org/10.1159/000019078DOI Listing

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