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学科主题临床医学
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families
Ma, Xiang; Li, Xiaoxin; Wang, Lihua
关键词Chinese patients juvenile retinoschisis mutation RS1 gene X-linked
刊名JAPANESE JOURNAL OF OPHTHALMOLOGY
2008-02-01
DOI10.1007/s10384-007-0488-4
52期:1页:48-51
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Ophthalmology
研究领域[WOS]Ophthalmology
关键词[WOS]EXPRESSION ; RS1
英文摘要

Purpose: To investigate various XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS).

Methods: Genomic DNA was isolated from leukocytes of 29 male patients with X-linked juvenile retinoschisis, 38 female carriers, and 100 normal controls. All 6 exons of the RS1 gene were amplified by polymerase chain reaction, and the RS1 gene mutations were determined by direct sequencing.

Results: Eleven different RS1 mutations in 12 families were identified in the 29 male patients. The mutations comprised eight missense, two frameshift, and one splice donor site mutation. Four of these mutations, one frameshift mutation ( 26 del T) in exon 1, one frameshift mutation ( 488 del G) in exon 5, Asp145His and Arg156Gly in exon 5, have not been previously described. One novel non-disease-related polymorphism, 576C to T (Pro192Pro) in exon 6, was also found. Six recurrent mutations, Ser73Pro and Arg102Gln mutations in exon 4 and Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg mutations in exon 6, were also identified in this study.

Conclusion: RS1 gene mutations caused X-linked juvenile retinoschisis in these Chinese families.

语种英语
WOS记录号WOS:000254438700008
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60828
专题北京大学第二临床医学院
作者单位Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China
推荐引用方式
GB/T 7714
Ma, Xiang,Li, Xiaoxin,Wang, Lihua. Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families[J]. JAPANESE JOURNAL OF OPHTHALMOLOGY,2008,52(1):48-51.
APA Ma, Xiang,Li, Xiaoxin,&Wang, Lihua.(2008).Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.JAPANESE JOURNAL OF OPHTHALMOLOGY,52(1),48-51.
MLA Ma, Xiang,et al."Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families".JAPANESE JOURNAL OF OPHTHALMOLOGY 52.1(2008):48-51.
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