|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|
|WOS标题词||Science & Technology|
|关键词[WOS]||EXPRESSION ; RS1|
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.
|作者单位||Peking Univ, Peoples Hosp, Eye Ctr Peking Univ, Beijing 100044, Peoples R China|
|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.|