Nghiên cứu gen cyp11b2 ở người bệnh có sự tăng cao aldosterone

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Tác giả: Huy Hoàng Nguyễn, Bernhardt Rita

Ngôn ngữ: vie

Ký hiệu phân loại: 612.45 Adrenal glands

Thông tin xuất bản: 2013

Mô tả vật lý: 27-32

Bộ sưu tập: Metadata

ID: 558865

 Aldosterone is the main mineralocorticoid in human. It is involved in the regulation of the salt and water household of the body and thus in the regulation of blood pressure. Herein, the authors have studied a male patient with hyperaldosteronism and diabetes type 2. The patient was diagnosed with glucocorticoid-remediable
 !Idosteronism (ORA). ORA is caused by crossing-over between CYP11B1 and CYP11B2 gene. CYP11B2 gene (approximately 7 kb) and CYP11B2 promoter (approximately 2.2 kb) were amplified by PCR and sequenced. The variant of on each allele of CYP11B2 promoter gene were performed by CYP11B2 promoter gene cloned into pGlow- TOPO vector, and then 10 clones was sequenced. The results showed that one mutant R374K was detected in CYP11B2 gene. There was not chimeric gene: cross-over between 5' coding senquence of CYP11BI gene and 3' coding sequence of CYP11B2 gene. Thirteen variations of CYP11B2 promoter gene were detected in positions: -84, -130 to -131, 257, -337, -464, -638, -656, -695, -1415 to -1418, -1506, -1577 to -1579, -1644, and -1740. The variation of CYP11B2 promoter could cause affecting hyperaldosteronism of patient.
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