Deficiencies of Human Complement Component C4a and C4b and Heterozygosity in Length Variants of RP-C4-CYP21-TNX (Rccx) Modules in Caucasians
نویسندگان
چکیده
منابع مشابه
Deficiencies of Human Complement Component C4a and C4b and Heterozygosity in Length Variants of RP-C4-CYP21-TNX (Rccx) Modules in Caucasians
The complement component C4 genes located in the major histocompatibility complex (MHC) class III region exhibit an unusually complex pattern of variations in gene number, gene size, and nucleotide polymorphism. Duplication or deletion of a C4 gene always concurs with its neighboring genes serine/threonine nuclear protein kinase RP, steroid 21-hydroxylase (CYP21), and tenascin (TNX), which toge...
متن کاملDeficiencies of Human Complement Component C4A and C4B and Heterozygosity in Length Variants of RP-C4-CYP21-TNX (RCCX) Modules in Caucasians: The Load of RCCX Genetic Diversity on Major Histocompatibility Complex–associated Disease
The complement component C4 genes located in the major histocompatibility complex (MHC) class III region exhibit an unusually complex pattern of variations in gene number, gene size, and nucleotide polymorphism. Duplication or deletion of a C4 gene always concurs with its neighboring genes serine/threonine nuclear protein kinase RP , steroid 21-hydroxylase ( CYP21 ), and tenascin ( TNX ), which...
متن کاملComplete complement components C4A and C4B deficiencies in human kidney diseases and systemic lupus erythematosus.
Although a heterozygous deficiency of either complement component C4A or C4B is common, and each has a frequency of approximately 20% in a Caucasian population, complete deficiencies of both C4A and C4B proteins are extremely rare. In this paper the clinical courses for seven complete C4 deficiency patients are described in detail, and the molecular defects for complete C4 deficiencies are eluc...
متن کاملSensitive and specific real-time polymerase chain reaction assays to accurately determine copy number variations (CNVs) of human complement C4A, C4B, C4-long, C4-short, and RCCX modules: elucidation of C4 CNVs in 50 consanguineous subjects with defined HLA genotypes.
Recent comparative genome hybridization studies revealed that hundreds to thousands of human genomic loci can have interindividual copy number variations (CNVs). One of such CNV loci in the HLA codes for the immune effector protein complement component C4. Sensitive, specific, and accurate assays to interrogate the C4 CNV and its associated polymorphisms by using submicrogram quantities of geno...
متن کاملdedekind modules and dimension of modules
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ژورنال
عنوان ژورنال: Journal of Experimental Medicine
سال: 2000
ISSN: 0022-1007,1540-9538
DOI: 10.1084/jem.191.12.2183