Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.
نویسندگان
چکیده
plasma) (15 ), of vitamin E (carried in lipoproteins together with cholesterol) and other antioxidants (16 ), and in sepsis, with reduced antioxidant protection by sulfur amino acids (17 ). In sepsis, it is also related to impaired energy and amino acid disposal, which is partly reversed by increasing the amino acid supply (2, 18). Recent studies also suggest that cholesterol becomes an essential substance in extreme illness (19 ). At present, however, the main clinical implication of severe hypocholesterolemia in acute states is the need for rapid treatment and resolution of the underlying illness.
منابع مشابه
Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
BACKGROUND A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is caused by unequal gene crossover in the CYP21 genes during meiosis. The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in PCR amplification. This leads to a false result and diagnostic discordance. ...
متن کاملCharacterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
The gene encoding adrenal steroid 21-hydroxylase, CYP21, is located in the MHC class III region. Most cases of congenital adrenal hyperplasia (CAH) are caused by mutations in this gene, and most mutations appear to arise from gene conversion-like events involving the transfer of deleterious sequences from the pseudogene, CYP21P, which is located within 30 kb of CYP21. Approximately 20-30% of mu...
متن کاملMutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.
21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result from sequence exchanges involving the duplicated units. We now describe a compre...
متن کاملAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...
متن کاملH28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.
In the classical form of 21-hydroxylase deficiency, CYP21- affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted f...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 49 2 شماره
صفحات -
تاریخ انتشار 2003