Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland
نویسندگان
چکیده
منابع مشابه
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
OBJECTIVE To undertake mutational analysis in patients with different forms of steroid 21-hydroxylase deficiency. SUBJECTS AND METHODS CYP21 gene molecular analysis was performed in 76 Czech patients diagnosed with steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8bp deletion in exon 3, I172N, V281L, Q318X, R356W, and P453S) were analyzed usi...
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 کاملSteroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors.
Twenty-one hydroxylase (P450c21) is a key enzyme essential for normal zona glomerulosa and fasciculata function. Recently, 21-hydroxylase deficiency has been implicated in the pathogenesis of adrenocortical tumors. Therefore, we investigated the mutational spectrum of the CYP21B gene and the messenger RNA expression of P450c21 in six aldosterone-producing adenomas, seven cortisol-producing aden...
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...
متن کاملPrenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene.
A splicing junction mutation at nucleotide 656 (A-> G substitution, I2G) in the steroid 21-hydroxylase gene (CYP21) is the most frequently detected mutation in patients with the salt-wasting and simple-virilizing forms of steroid 21-hydroxylase deficiency (approximately 60%). In this disease, prenatal diagnosis and treatment to minimize the effects of excess androgen in affected females has bee...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 1999
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200262