Department of Molecular Genetics, Aravind Medical Research Foundation, Madurai, India.
Department of Orbit, Oculoplasty and Oncology, Aravind Eye Hospital, Madurai, India.
Indian J Ophthalmol. 2019 Mar;67(3):436-439. doi: 10.4103/ijo.IJO_1245_18.
Retinoblastoma has an increased inheritance risk of germline RB1 mutations in offspring and siblings, especially twins. Three families, each having one retinoblastoma-affected twin, were selected for genetic analysis and DNA profiling. Germline RB1 mutations were found in all probands. DNA profiling carried on similar-looking twins of families I and II, proved them to be fraternal. This study demonstrates the importance of genetic analysis of RB1 gene for risk prediction in retinoblastoma families. It also emphasizes that DNA profiling is a mandate for genetic screening of families with twins, thus adding a new dimension in counseling of retinoblastoma.
视网膜母细胞瘤患者的后代和同胞（尤其是双胞胎）存在 RB1 基因突变的遗传风险增加。本研究选择了三户各有一名视网膜母细胞瘤双胞胎患者的家庭进行遗传分析和 DNA 指纹图谱检测。结果发现所有先证者均存在 RB1 基因突变。对来自第一和第二家庭的外观相似的双胞胎进行 DNA 指纹图谱检测，证实他们为异卵双生。本研究表明对视网膜母细胞瘤家族进行 RB1 基因突变的遗传分析对于风险预测具有重要意义。同时强调 DNA 指纹图谱检测对于双胞胎家庭的遗传筛查也是必要的，从而为视网膜母细胞瘤的咨询提供了新的维度。
