Human CYP11B2 (Aldosterone Synthase) Maps To Chromosome 8q24.3 | Zendy

Susan E. Taymans | Zendy; Svetlana Pack | Zendy; Evgenia Pak | Zendy; David J. Torpy | Zendy; Zhengping Zhuang | Zendy; Constantine A. Stratakis | Zendy

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Human CYP11B2 (Aldosterone Synthase) Maps To Chromosome 8q24.3

Author(s) -

Susan E. Taymans,

Svetlana Pack,

Evgenia Pak,

David J. Torpy,

Zhengping Zhuang,

Constantine A. Stratakis

Publication year - 1998

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jcem.83.3.4801

Subject(s) - aldosterone synthase , locus (genetics) , biology , genetics , gene map , gene mapping , candidate gene , chromosome regions , fluorescence in situ hybridization , bacterial artificial chromosome , chromosome , positional cloning , gene , genome , endocrinology , renin–angiotensin system , blood pressure

Aldosterone synthase (AS) is encoded by the CYP11B2 gene, a candidate for familial hypertension. CYP11B2 was previously mapped to chromosome 8q but its precise localization is necessary for genetic studies of hypertension. The present study reports the genetic mapping of the human CYP11B2 gene by radiation hybrid (RH) analysis, the isolation of a bacterial artificial chromosome (BAC) containing this gene and its physical mapping by fluorescent in situ hybridization (FISH). The CYP11B2 locus is on the most distal segment of the long arm of chromosome 8, proximal to the microsatellite polymorphic marker D8S1704. This location, which was confirmed by FISH, is approximately 60cM telomeric to the currently listed human gene locus (chromosome 8q21-22) and corresponds to cytogenetic band 8q24.3. The BACs containing the gene and a high-resolution map of the CYP11B2 locus are useful for genetic studies of hypertension and other endocrine disorders.

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