کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6156158 | 1247915 | 2013 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Identification of a novel mutation in CYP17A1 gene
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کلمات کلیدی
dehydroepiandrosteroneRIACAH17OHPACTHDHEA17-hydroxyprogesterone - 17 هیدروکسی پروژسترون17-Hydroxypregnenolone - 17-هیدروکسی پروژنتولونradioimmunoassay - رادیوایمونواسیadrenocorticotropic hormone - هورمون adrenocorticotropicCongenital adrenal hyperplasia - هیپرپلازی آدرنال مادرزادیpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازProgesterone - پروژسترون
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive genetic disease that is characterized by low-renin hypertension, hypokalemia, and abnormal development of the genitalia. Mutations in the CYP17A1 gene account for this disease. We aim to investigate the CYP17A1 mutation and analyze its possible influence on phenotype in a Chinese patient with 17OHD. Steroid hormones were assayed. The 8 exons of the CYP17A1 gene were amplified and directly sequenced. Wild-type and mutant CYP17A1 cDNA were cloned into pcDNA3.1 expression vectors and transfected into 293T cells. Finally, 17-hydroxylase and 17,20-lyase activity were detected by using progesterone and 17-hydroxypregnenolone as the substrates. A novel missense mutation c.716 G>A located in exon 4 that changed the amino acid from arginine to glutamine (R239Q) was discovered in the patient. Steric model analysis of CYP17A1 showed that R239Q changed the local structure and the electrostatic potential. Functional study indicated that the R239Q mutant caused the complete loss of both 17α-hydroxylase and 17,20-lyase activities. Our study expanded the CYP17A1 mutation spectrum. With a functional study, we confirmed that the novel mutation caused the complete loss of both 17α-hydroxylase and 17,20-lyase activities.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Translational Research - Volume 161, Issue 1, January 2013, Pages 44-49
Journal: Translational Research - Volume 161, Issue 1, January 2013, Pages 44-49
نویسندگان
Li-Qiong Xue, Bing Han, Li-Bo Chen, Chun-Ming Pan, Hui Zhu, Bing-Li Liu, Wei Liu, Wan-Ling Wu, Ming-Dao Chen, Ying-Li Lu, Jie Qiao, Huai-Dong Song,