Details

Autor(en) / Beteiligte

• NÜRNBERGER, W.
• PIETSCH, H.
• WILLERS, R.
• BUFON, T.
• HÄNSCH, G. M.
• SEGER, R.
• RODRIGUEZ‐VALVERDE, V.
• SCHROTEN, H.
• HERSHKO, C.
• TEDESCO, F.
• WAHN, V.

Titel

Deficiency of the Eighth Component of Complement. Evidence for Linkage of C8α‐γ Pattern with C8β Deficiency in Sera of Twelve Patients

Ist Teil von

• Scandinavian journal of immunology, 1989-07, Vol.30 (1), p.45-49

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

1989

Link zum Volltext

Quelle

Wiley-Blackwell Full Collection

Beschreibungen/Notizen

• The C8α‐γ subunit of the eighth component of complement was analysed by sodium dodecyl sulphate‐polyacrylamide gel electrophoresis and immunoblotting in sera from 68 normal individuals, 12C8β‐deficient patients (from seven unrelated families), and 10 of the parents of the latter. Three different forms of the C8α‐γ subunit were observed: 34/68 normal individuals were found to have a C8α‐γ triple band (termed C8α‐γ1, C8α‐γ2, C8α‐γ3 variants), 23/68 the C8α‐γ2 and C8α‐γ3 variants, and 11/68 the CSα‐γ1 and C8α‐γ3 variants. In contrast, all C8β‐deficient patients had detectable C8α‐γ2 and C8α‐γ3 variants but lacked the C8α‐γ1 variant in addition to the C80 subunit. Three out often parents of the C8β‐deficient patients were found to have the C8α‐γ triple band, whereas 7/10, like their children, had the C8α‐γ2 and C8α‐γ3 variants only. We conclude that there is a linkage between the C8α‐γ pattern and C8β deficiency. These data may support earlier findings that in humans the genes encoding for C8α‐γ and C8β are closely linked on chromosome 1.