Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
复制标题
婴儿 Bartter 综合征与感音神经性耳聋与 1p 染色体的联系。
DOI：
10.1086/301708
复制
发表时间：
1998
影响因子：
9.8
通讯作者：
Sheffield,VC
中科院分区：
文献类型：
--
作者：
Brennan,TM;Landau,D;Shalev,H;Lamb,F;Schutte,BC;Walder,RY;Mark,AL;Carmi,R;Sheffield,VC
巴特综合征（Bartter syndrome， BS）是一个以低钾血症、低氯血症代谢性碱中毒伴正常血压高肾素血症高醛固酮增多症为表现的疾病家族。我们评估了一个独特的近交贝都因亲属，其中感音神经性耳聋（SND）与BS表型的婴儿变体共分离。使用dna池策略，我们筛选了人类基因组，并成功地证明了这种独特综合征与染色体1p31的联系。位于该区域附近的两个肾脏特异性氯离子通道和一个钠/氢反转运蛋白的基因被排除在候选基因之外。尽管对该家族致病基因的研究仍在继续，但这种联系进一步证明了BS的遗传异质性。此外，这些表型的共分离允许我们假设一个单一的遗传改变可能是SND和BS表型的原因。该基因的鉴定和表征将有助于更好地理解肾脏和内耳的正常生理机能。
Bartter syndrome (BS) is a family of disorders manifested by hypokalemic hypochloremic metabolic alkalosis with normotensive hyperreninemic hyperaldosteronism. We evaluated a unique, inbred Bedouin kindred in which sensorineural deafness (SND) cosegregates with an infantile variant of the BS phenotype. Using a DNA-pooling strategy, we screened the human genome and successfully demonstrated linkage of this unique syndrome to chromosome 1p31. The genes for two kidney-specific chloride channels and a sodium/hydrogen antiporter, located near this region, were excluded as candidate genes. Although the search for the disease-causing gene in this family continues, this linkage further demonstrates the genetic heterogeneity of BS. In addition, the cosegregation of these phenotypes allows us to postulate that a single genetic alteration may be responsible for the SND and the BS phenotype. The identification and characterization of this gene would lead to a better understanding of the normal physiology of the kidney and the inner ear.