Genetic detection of the silent allele (*QO) in hereditary deficienies of the human complement C6, C7, and C9 components
Journal Article
·
· American Journal of Medical Genetics
- Hospital Central de Asturias, Oviedo (Spain); and others
DNA polymorphisms (RFLPs) of the human complement component C6, C7, and C9 genes were studied in three C7-deficient (C7D) families, one C6-deficient (C6D) family, and one C9-deficient (C9D) family. The 3 loci are closely linked on human chromosome 5. The haplotypes carrying the {open_quotes}silent{close_quotes} allele (C7*Q0, C6*Q0, and C9*Q0) were defined in each family, allowing for the detection of carries among asymptomatic relatives. This paper describes familial studies on a type of hereditary trait, characterized by recurrent Neisseria infections in individuals homozygous for {open_quotes}silent{close_quotes} alleles at the C6, C7, or C9 loci. 28 refs., 2 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 90828
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 55; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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Thu Mar 14 23:00:00 EST 1991
· FASEB Journal (Federation of American Societies for Experimental Biology); (United States)
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OSTI ID:5148179