کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1965929 1538702 2011 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population
چکیده انگلیسی

BackgroundCongenital adrenal hyperplasia owing to 17α-hydroxylase/17, 20-lyase deficiency is caused by genetic mutations in the CYP17A1 gene. To date, more than 80 different genetic lesions have been described in patients suffering from this disorder. We aimed to estimate the prevalence of CYP17A1 common mutations in Chinese Han population.MethodsWe first reported two female patients with 17α-hydroxylase deficiency based on their clinical features and molecular genetics, and then summarized all the mutations of CYP17A1 gene reported around the world. The most common mutations of CYP17A1 among Chinese Han were genotyped in additional 3245 healthy Chinese using Taqman-assays.ResultsThe mutation spectrum in Asian is different from European decent. All healthy controls could detect two CYP17A1 mutations, D487-S488-F489 deletion and TAC329AA, with a prevalence of 1 in 1000 or 2 in 1000, respectively.ConclusionOur data demonstrates that these two mutations are major causes of 17α-hydroxylase deficiency in Chinese Han population.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinica Chimica Acta - Volume 412, Issues 13–14, 11 June 2011, Pages 1240–1243
نویسندگان
, , , , , , ,