Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
Genetic analysis of two Japanese patients with non-classical 21-hydroxylase deficiency.
We report two Japanese women with androgen excess symptoms. Analyses of 21-hydroxylase gene demonstrated that a 24-year-old Japanese woman had a homozygous mutation of IVS2-13 A/C>G, while a 25-year-old Japanese woman had a compound heterozygous mutation of I172N and E245del1nt, a novel mutation which would result in completely nonfunctional enzyme due to a frame shift. As IVS2-13 A/C>G and I17...
متن کاملRapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
BACKGROUND Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17alpha-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene. METHODS Between January 1999 a...
متن کاملMolecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype–phenotype correlations
Objective The spectrum of molecular defects in Chinese patients with 21-hydroxylase deficiency (21-OHD), and genotype-phenotype relationships are unknown. Methods We screened eight patients with non-classical (NC) 21-OHD and 35 with classical 21-OHD, and detected nine known mutations. Results The most frequent mutation among the 43 21-OHD cases was p.Ile172Asn (allele frequency, 36.0%), followe...
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 ...
متن کاملHeterogeneity 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...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 1999
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380050167