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Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus. 1990

H Yamada, and A Watanabe, and A Mimori, and K Nakano, and F Takeuchi, and K Matsuta, and K Tanimoto, and T Miyamoto, and Y Yukiyama, and K Tokunaga
Department of Medicine and Physical Therapy, School of Medicine, University of Tokyo, Fujitsu Kawasaki Hospital, Japan.

The frequency of C4A gene deletion was studied in Japanese patients with systemic lupus erythematosus (SLE) and was compared with healthy controls. DNA preparations were extracted from peripheral blood leukocytes from 59 patients with SLE and from 166 healthy persons, and digested by restriction enzymes. They were hybridized with C4 complementary DNA by the Southern blotting method and the deletion of C4A gene was judged from restriction fragment length polymorphism. At the same time phenotypic C4A deficiency (C4AQ0) was measured. Our results showed that the frequency of phenotypic C4A deficiency was 44.1% in Japanese patients with SLE and this value was comparable with that (43.2%) in Caucasian patients. On the other hand the deletion of C4A gene was not found in Japanese patients with SLE (0%), or in healthy controls (0.6%). Our results indicate that C4AQ0 may contribute to the pathogenesis of SLE beyond the ethnical differences but Japanese patients with SLE have a different genetic background from Caucasian patients with the C4A gene deleted.

UI MeSH Term Description Entries
D008180 Lupus Erythematosus, Systemic A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Libman-Sacks Disease,Lupus Erythematosus Disseminatus,Systemic Lupus Erythematosus,Disease, Libman-Sacks,Libman Sacks Disease
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D015934 Complement C4a The smaller fragment formed when complement C4 is cleaved by COMPLEMENT C1S. It is an anaphylatoxin that causes symptoms of immediate hypersensitivity (HYPERSENSITIVITY, IMMEDIATE) but its activity is weaker than that of COMPLEMENT C3A or COMPLEMENT C5A. C4a Complement,Complement 4a,Complement Component 4a,C4a, Complement,Complement, C4a,Component 4a, Complement

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