A gene for autosomal dominant congenital nystagmus localizes to 6p12
A gene for autosomal dominant congenital nystagmus localizes to 6p12
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DOI：
10.1006/geno.1996.0229
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发表时间：
1996-05-01
期刊：
影响因子：
4.4
通讯作者：
Maumenee, IH
中科院分区：
文献类型：
--
作者：
Kerrison, JB;Arnould, VJ;Maumenee, IH
先天性眼球震颤是一种特发性疾病，以双侧眼球振荡为特征，通常表现在婴儿期。由于图像在中央凹的滑动，视力通常会下降。因此，视力与眼震强度相关，眼震强度是在给定凝视位置时眼球运动的幅度和频率，x连锁、常染色体显性和常染色体隐性谱系已经被描述过，但没有发表过定位研究。我们最近描述了一个常染色体显性先天性眼震的大谱系。全基因组搜索结果显示，在theta = 0处，6p上有6个标记（D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430）。单倍型分析将常染色体显性先天性运动眼球震颤的基因定位在D6S271和D6S455之间的18厘米区域。(C) 1996学术出版社，Inc.
Congenital nystagmus is an idiopathic disorder characterized by bilateral ocular oscillations usually manifest during infancy. Vision is typically decreased due to slippage of images across the fovea. As such, visual acuity correlates with nystagmus intensity, which is the amplitude and frequency of eye movements at a given position of gaze, X-linked, autosomal dominant, and autosomal recessive pedigrees have been described, but no mapping studies have been published, We recently described a large pedigree with autosomal dominant congenital nystagmus. A genome-wide search resulted in six markers on 6p linked by two-point analysis at theta = 0 (D6S459, D6S452, D6S465, FTHP1, D6S257, D6S430). Haplotype analysis localizes the gene for autosomal dominant congenital motor nystagmus to an 18-cM region between D6S271 and D6S455. (C) 1996 Academic Press, Inc.