一个患有X连锁视网膜劈裂症的韩裔家族中XLRS1基因的新型突变。
A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
作者信息
Koh Hyoung Jun, Jwa Nam Soo, Kim Sung Soo, Lee Sung Chul, Kwon Oh Woong
机构信息
Department of Ophthalmology, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
出版信息
Korean J Ophthalmol. 2006 Mar;20(1):62-4. doi: 10.3341/kjo.2006.20.1.62.
PURPOSE
To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.
METHODS
Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direct sequencing method.
RESULTS
A novel Leu103Phe missense mutation was identified.
CONCLUSIONS
A novel Leu103Phe mutation is an additional missense mutation which is responsible for the pathogenesis of X-linked retinoschisis.
目的
报告一个患有X连锁视网膜劈裂症的韩国家庭中XLRS1基因的一种新型错义突变。
方法
对一个患有X连锁视网膜劈裂症的先证者家庭进行观察病例报告，并对其进行全面的眼科检查。从该家庭的血液中提取基因组DNA，通过聚合酶链反应扩增XLRS1基因的所有外显子，并使用直接测序法进行分析。
结果
鉴定出一种新型的Leu103Phe错义突变。
结论
新型Leu103Phe突变是另一种导致X连锁视网膜劈裂症发病机制的错义突变。
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