Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
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DOI：
10.1038/ng0596-98
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发表时间：
1996
期刊：
影响因子：
30.8
通讯作者：
H. Schuster;T. Wienker;S. Bähring;N. Bilginturan;Hakan R Toka;H. Neitzel;Eva Jeschke;O. Toka;Dennis A Gilbert;A. Lowe;J. Ott;H. Haller;F. Luft
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文献类型：
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作者：
H. Schuster;T. Wienker;S. Bähring;N. Bilginturan;Hakan R Toka;H. Neitzel;Eva Jeschke;O. Toka;Dennis A Gilbert;A. Lowe;J. Ott;H. Haller;F. Luft
寻找导致人类高血压的基因并非易事，因为原发性高血压的血压决定因素是多因素的。识别相关基因的一种方法是阐明罕见的单基因高血压。相关突变可能为分析影响20%世界人口的疾病的病理生理学提供了一个合理的起点。1973年，描述了一个常染色体显性遗传性短指和重度高血压家系，这两个特征完全分离。我们现在重新检查了这个家系，并将高血压和短指畸形基因定位在染色体12p上由标记D12S364和D12S87定义的区域。由于肾素-血管紧张素系统和交感神经系统在这种形式的高血压中反应正常，这种情况类似于原发性高血压。这一特征将其与糖皮质激素可治疗的醛固酮增多症和利德尔、S综合征区别开来，后者是血浆肾素活性极低的盐敏感型单基因高血压3-7。我们建议，鉴定与高血压和短指畸形及其突变有关的基因，对于阐明导致血压升高的新机制具有重要意义。
Finding genes that cause human hypertension is not straightforward, since the determinants of blood pressure in primary hypertension are multifactorial1. One approach to identifying relevant genes is to elucidate rare forms of monogenic hypertension. A relevant mutation may provide a rational starting point from which to analyse the pathophysiology of a condition affecting 20% of the world's population. In 1973 a family with autosomal dominantly inherited brachydactyly and severe hypertension, where the two traits cosegregated completely, was described2. We have now re-examined this kindred, and localized the hypertension and brachydactyly locus to chromosome 12p in a region defined by markersD12S364andD12S87. As the renin-angiotensin-system and sympathetic nervous system respond normally in this form of hypertension, the condition resembles essential hypertension. This feature distinguishes this form of hypertension from glucocorticoid remediable aldosteronism and Liddle,s syndrome, which are salt-sensitive forms of monogenic hypertension with very low plasma renin activity3–7. We suggest that identification of the gene involved in hypertension and brachydactyly and its mutation will be of great relevance in elucidating new mechanisms leading to blood pressure elevation.