原发性醛固酮增多症遗传学研究进展被引量：2

Progress on genetic basis of primary aldosteronism

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摘要原发性醛固酮增多症（原醛症）的遗传学研究,除了已证实家族性Ⅰ型醛固酮增多症的发病与11β羟化酶（CYP11B1）/醛固酮合成酶（CYP11 B2）嵌合基因有关外.近年来,多项研究表明原醛症的发病机制可能涉及7号染色体短臂（7p22）及CYP11 B1、CYP11 B2基因多态性改变,离子通道相关KCNJ5、ATP1A1、CACNA1D等基因突变等.本文就各型原醛症的遗传学研究进展作一综述. It has been proven that familial aldosteronism type I is related to 11-beta hydroxylase （ CYP11 B1 ）/aldosterone synthase （ CYPI 1 B2 ） chimeric genes. In recent years, accumulated evidences indicate that the genetic basis of primary aldosteronism may involve chromosome 7p22 candidate genes, polymorphisms of CYPllB1 and CYPllB2 genes, mutations of ion channel-related KCNJ5, ATP1A1, CACNA1D genes. The article reviews the progress on genetic basis of primary aldosteronism.

作者张弘谷卫贾敏月宋筱筱

机构地区浙江大学医学院附属第二医院内分泌科

出处《浙江大学学报（医学版）》 CAS CSCD 北大核心 2014年第5期612-618,共7页 Journal of Zhejiang University(Medical Sciences)

基金浙江省科技厅科研基金(2011C23018)

关键词醛固酮增多症醛固酮合酶/遗传学基因型多态现象遗传染色体突变综述 Hyperaldosteronism Aldosterone synthase/genetics Genotype Polymorphism, genetic chromosomes Mutation Review

分类号 R586.24 [医药卫生—内分泌]

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参考文献40

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二级参考文献13

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