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Terminal complement component deficiencies in Japan
1Osaka Red Cross Blood Center, Osaka, Japan. yfoichan@al.mbn.or.jp
Insights
Inherited deficiencies in complement components C5, C6, C7, C8, and C9 are present in healthy Japanese blood donors. Genetic analysis identified specific mutations underlying some of these complement deficiencies.
Area of Science:
- Immunology
- Genetics
- Biochemistry
Background:
- The complement system is crucial for innate immunity.
- Deficiencies in complement components can lead to increased susceptibility to infections.
- Prevalence of complement component deficiencies in Asian populations is not well-established.
Purpose of the Study:
- To determine the prevalence of inherited deficiencies in complement components C5, C6, C7, C8, and C9 in a healthy Japanese blood donor population.
- To investigate the genetic basis of identified complement deficiencies.
Main Methods:
- Serological screening of 145,640 healthy Japanese blood donors for complement component deficiencies.
- Genetic analysis using exon-specific PCR-SSCP and direct sequencing for individuals with identified deficiencies.
Main Results:
- Identified 2 cases of C5 deficiency (C5D), 4 of C6D, 6 of C7D, 4 of C81D, and 138 of C9D.
- Elucidated the genetic causes for some C6D, C7D, C81D, and C9D individuals.
Conclusions:
- Inherited deficiencies in C5-C9 are present in the Japanese population.
- Genetic investigations are essential for understanding the molecular basis of complement deficiencies.
Abstract:
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.