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DNA haplotypes of the complement C6 and C7 genes associated with deficiencies of the seventh component; and a new DNA polymorphism in C7 exon 13

Published online by Cambridge University Press:  01 July 1997

B. A. FERNIE ,
A. ORREN ,
M. SCHLESINGER ,
R. WÜRZNER ,
A. E. PLATONOV ,
R. C. COOPER ,
Y. E. WILLIAMS  and
M. J. HOBART
B. A. FERNIE
Affiliation:
Molecular Immunopathology Unit, MRC Centre, Cambridge, UK
A. ORREN
Affiliation:
Department of Microbiology, University College Galway, Galway, Ireland
M. SCHLESINGER
Affiliation:
Paediatric Department, Barzilai Medical Centre, Ashkelon, Israel
R. WÜRZNER
Affiliation:
Institute für Hygiene, University of Innsbruck, A-6020 Innsbruck, Austria
A. E. PLATONOV
Affiliation:
Central Institute of Epidemiology, Moscow, Russia
R. C. COOPER
Affiliation:
Department of Medical Microbiology, University of Stellenbosch, Tygerberg Hospital, Parrow, Western Cape, South Africa
Y. E. WILLIAMS
Affiliation:
Department of Immunology, St James Hospital, Dublin, Ireland
M. J. HOBART
Affiliation:
Molecular Immunopathology Unit, MRC Centre, Cambridge, UK
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Abstract

Eight common DNA polymorphisms have been described for the linked C6 and C7 genes. We now describe a ninth polymorphism in C7 exon 13 which is located in a tight cluster with two previously reported markers. We have used all these markers to investigate the heterogeneity of C7 deficiency. Five of the nine C7 deficient probands (resident in Ireland, South Africa, Russia and Israel) are heterozygous for C6/C7 haplotypes. Seven different C7 deficient haplotypes were found for C7 markers alone, but all the four Israelis share one and three out of four Irish haplotypes share another. The markers appear to be a good guide to the heterogeneity of C7 deficiency and have been useful in choosing homozygous subjects for the investigation of molecular defects.

Type
Research Article
Information
Annals of Human Genetics , Volume 61 , Issue 4 , July 1997 , pp. 287 - 298
Copyright
© University College London 1997

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