Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
نویسندگان
چکیده
منابع مشابه
Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4). Evidence for deletion of the active 21-hydroxylase gene (CYP21B) was found in 13 cases and...
متن کاملMutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a specific cytochrome P450, P450c21 (P450XXIA). The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) are located in the HLA complex on chromosome 6p. Many mutant alleles are associated with deletions of CYP21B; we report the cloning and charac...
متن کاملAnalysis 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 کامل[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
متن کاملPrenatal Diagnosis and Treatment of Steroid 21-Hydroxylase Deficiency
Steroid 21-hydroxylase deficiency congenital adrenal hyperplasia is the most common cause of genital ambiguity in females at birth. Inhibited formation of cortisol causes increase in the release of ACTH in turn leading to overproduction of adrenal androgens. This predisposes the affected female fetus to prenatal development of genital ambiguity. A large number of patients also have aldosterone ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.9.596