在韩国视网膜母细胞瘤患者中鉴定出四种新的RB1种系突变。
Identification of four novel RB1 germline mutations in Korean retinoblastoma patients.
作者信息
Yu Y S, Kim I J, Ku J L, Park J G
机构信息
Department of Ophthalmology, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
出版信息
Hum Mutat. 2001 Sep;18(3):252. doi: 10.1002/humu.1184.
To elucidate RB1 germline mutations in Korean retinoblastoma patients, DNA samples from 14 children with bilateral (including three familial cases) and 19 children with unilateral retinoblastoma were analyzed. We found germline mutations in three out of 14 bilateral cases and one out of 19 unilateral cases. There were no germline mutations in the three familial cases. PCR-SSCP from each exon showed bandshifts in four patients which, upon sequencing, were shown to be K616E in exon 19 (c.1846A>G), an AA insertion in exon 7 (c.684-685insAA), R500G in exon 16 (c.1498A>G), and an A insertion in exon 23 (c.2391-2392insA), respectively. Hum Mutat 18:252, 2001.
为阐明韩国视网膜母细胞瘤患者中RB1基因种系突变情况，我们分析了14例双侧视网膜母细胞瘤患儿（包括3例家族性病例）和19例单侧视网膜母细胞瘤患儿的DNA样本。我们在14例双侧病例中的3例以及19例单侧病例中的1例发现了种系突变。3例家族性病例中未发现种系突变。对每个外显子进行的PCR-SSCP分析显示，4例患者出现条带迁移，测序结果表明，分别为第19外显子的K616E（c.1846A>G）、第7外显子的AA插入（c.684-685insAA）、第16外显子的R500G（c.1498A>G）以及第23外显子的A插入（c.2391-2392insA）。《人类突变》18:252，2001年。
Zotero 插件