Guo Xiangming, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Wang Panfeng, Zhang Qingjiong
Key Laboratory of Ophthalmology of the Ministry of Education, Sun Yat-sen University, Guangzhou, People's Republic of China.
Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, 510060, Guangzhou, People's Republic of China.
J Hum Genet. 2006;51(1):76-80. doi: 10.1007/s10038-005-0316-y. Epub 2005 Oct 21.
X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers at about 10 cM intervals on the X chromosome. The nystagmus in these two families is linked to markers in the region of chromosome Xq23-q27, including DXS1001, DXS8009, and DXS1047. DXS1047 gave the highest lod score of 3.53 at theta = 0.
在中国广东省的两个中国家庭中发现了X连锁隐性先天性眼球震颤。眼球震颤在儿童早期被发现。这些家庭中只有男性受影响，所有肯定携带者均无眼球震颤。使用X染色体上间隔约10 cM的微卫星标记进行连锁研究。这两个家庭中的眼球震颤与Xq23-q27区域的标记物连锁，包括DXS1001、DXS8009和DXS1047。在θ=0时，DXS1047的最高连锁值为3.53。
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