نتایج جستجو برای: ژن cyp21a2
تعداد نتایج: 16028 فیلتر نتایج به سال:
In the human genome, the major histocompatibility complex class III region on chromosome 6p21.3 stands out as an area of remarkably high gene density. 2 Within this region, a section of particular complexity centres around the C4 genes, which encode the fourth component of complement. Centromeric to C4 lies the CYP21A2 gene, which encodes steroid 21-hydroxylase, a key enzyme in the biosynthesis...
Sommario La ricerca di varianti patogenetiche del gene CYP21A2 , responsabili 90–95% dei casi iperplasia surrenale congenita, è resa altamente complessa dall’omologia sequenza con lo pseudogene, dall’elevata frequenza ricombinazione locus e dal numero variabile moduli ripetuti. Tuttavia, grazie alle recenti conoscenze nuove metodiche si sono raggiunti ottimi livelli diagnostici importanti per u...
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Te...
هیپرپلازی مادرزادی آدرنال شامل یک گروهی از بیمارهای، ناشی از اختلال آنزیمی در راه ساخته شدن استروئیدهای آدرنال است. شایعترین نوع آن کمبود آنزیم 21- هیدروکسیلاز است که در اثر نقص در ژن cyp21a2 ایجاد میشود. در این مطالعه هدف بررسی ارتباط ژنوتیپ – فنوتیپ در بیماران ایرانی مبتلا به کمبود 21 هیدروکسیلاز بود. تعداد 89 بیمار شناخته شده مبتلا به هیپرپلازی مادرزادی آدرنال از نوع کمبود 21-هیدروکسیلاز که ...
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...
Received: April 1, 2009 Accepted: May 13, 2009 Correspondence: Dr. Keisuke Nagasaki, Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, 1-757 Asahimachi, Niigata 951-8510, Japan E-mail: [email protected] H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
CONTEXT In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking. OBJECTIVE The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations influences the treatment and health status in adults with CAH. RESEARCH DESIGN AND METHODS We anal...
The biochemical diagnosis of 21-hydroxylase deficiency (21-OHD) is difficult in preterm infants. To date, no marker for the biochemical diagnosis of 21-OHD has been found. Seventeen α-hydroxyprogesterone (17-OHP), is not useful because of interference by delta 5 steroids from the fetal adrenal cortex. A 5-d-old female infant, born at 31 wk of gestation, was suspected of having 21-OHD based on p...
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