1. Difficulties in the ascertainment of C9 deficiency: lessons to be drawn from a compound heterozygote C9-deficient subject.
- Author
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Hobart, M. J., Fernie, B. A., Würzner, R., Goldroyd, R. G., Harrison, R. A., Joysey, V., and Lachmann, P. J.
- Subjects
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HOMOGRAFTS , *TRANSPLANTATION of organs, tissues, etc. , *COLLOIDS , *NUCLEIC acids , *GENETIC markers , *CELL nuclei - Abstract
A group of patients with long-surviving mismatched kidney allografts were investigated for complement function using haemolytic assays in agarose gels. One patient was found to have no alternative pathway activity hut a low normal classical pathway. Surprisingly, investigation revealed that the Patient's complement was normal for all components except (N, which was functionally absent. The patient was shown to he heterozygous for DNA markers in the C6, C7 and C9 region of chromosome 5 and therefore appears to be a compound heterozygote for two uncharacterized C9 deficiency genes. Serological analysis by ELISA revealed that he has trace concentrations of a non-functional C9 molecule. Western blot analysis was not sufficiently sensitive to permit detection of this molecule. We hypothesize that the patient is heterozygous for a complete deficiency of C9 and for a gene directing hyposynthesis of a defective C9. We also suggest that C9 deficiency may be inure common among Caucasians than has been reported. [ABSTRACT FROM AUTHOR]
- Published
- 1997
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