CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
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 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...
متن کاملThe Frequency of Eight Common Point Mutations in CYP21 Gene in Iranian Patients with Congenital Adrenal Hyperplasia
Background: Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. More than 95% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD). Females with severe, classic 21-OHD are exposed to excess androgens prenatally and are born with virilized external genitalia. Most pati...
متن کاملVitamin D 1 -Hydroxylase Gene Mutations in Patients with 1 -Hydroxylase Deficiency
Department of Pediatrics (C.J.K., L.E.K., F.P., N.H., W.L.M., A.A.P.), University of California, San Francisco, San Francisco, California 94143; Pediatric Nephrology (A.S.), MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard School of Medicine, Boston, Massachusetts 02114; and Department of Pediatrics (Y.C.), Seoul National University Children’s Hospital, Seoul 110-74...
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: Genetics and Molecular Biology
سال: 2008
ISSN: 1415-4757
DOI: 10.1590/s1415-47572008000400004