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首页> 外文期刊>International Journal of Neuroscience >A familial form of benign paroxysmal positional vertigo maps to chromosome 15
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A familial form of benign paroxysmal positional vertigo maps to chromosome 15

机译：家族性良性阵发性位置性眩晕可映射至15号染色体

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Aim: Benign positional paroxysmal vertigo (BPPV) is characterized by short-lived episodes of vertigo in association with rapid changes in head position, most commonly extension and rotation of the neck while supine. It has been clinically observed that there is a subgroup of patients in whom the BPPV disease is inherited in an autosomal dominant fashion. However, little is known about the familial/genetic factors that may contribute to a predisposition to develop the disease. Materials and Methods: We ascertained and performed a genome-wide scan on a three-generation family in which multiple family members developed BPPV. We performed whole genome mapping with 400 microsatellite repeat markers and analyzed this trait using both autosomal dominant and recessive models of inheritance. Results: Two point linkage analysis showed LOD scores of one or greater than one on chromosomes 7, 15, 16 and 20. Independent of the model of inheritance, the highest two-point LOD scores localized to same marker on chromosome 15. Multipoint linkage analysis showed the highest LOD score of 2.84 to markers on chromosome 15 with the autosomal dominant model. Haplotype reconstruction indicates that the BPPV gene in this family maps to a critical chromosomal 15 interval between markers GATA151F03N and GATA85D02. Conclusions: Discovery of a BPPV gene (or genes) will facilitate a better understanding of not only BPPV, but also the vestibular system. In addition, with improved understanding of the pathophysiology the potential development of alternative therapies for BPPV may be possible.
机译：目的：良性阵发性眩晕（BPPV）的特点是短暂的眩晕发作与头部位置的快速变化有关，最常见的是仰卧时颈部的伸展和旋转。临床上已经观察到，有一亚类患者的BPPV疾病以常染色体显性遗传。但是，对于可能导致该疾病易感性的家族/遗传因素知之甚少。材料和方法：我们确定并在一个三代家族中进行了全基因组扫描，其中多个家族成员开发了BPPV。我们用400个微卫星重复标记进行了全基因组作图，并使用常染色体显性和隐性遗传模型分析了该性状。结果：两点连锁分析显示，在7号，15号，16号和20号染色体上的LOD得分为1或大于1。独立于遗传模型，最高的两点LOD得分位于15号染色体上的同一标记上。多点连锁分析在常染色体显性模型中，对15号染色体上的标记物的最高LOD得分为2.84。单倍型重建表明该家族中的BPPV基因映射到标记GATA151F03N和GATA85D02之间的关键染色体15区间。结论：一个或多个BPPV基因的发现不仅有助于更好地理解BPPV，而且还有助于更好地理解前庭系统。另外，随着对病理生理学的进一步了解，可能有可能开发BPPV替代疗法。

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