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对100例视网膜母细胞瘤(RetinoblastomaRb)患者及双亲作眼底检查和外周血作高分辨染色体分析。结果18例患者染色体有13q14缺失。他们父辈中部分人也有类似缺失。其中有些外表正常的父亲或母亲的眼底发现视网膜瘢痕或良性视网膜细胞瘤,表明他们是突变Rd基因的携带者。结果表明最初的Rb基因突变主要来自父源并传给后代。
100 cases of retinoblastoma (RetinoblastomaRb) patients and their parents for fundus examination and peripheral blood for high-resolution chromosome analysis. Results 18 cases of chromosome 13q14 deletion. Some of their fathers also have similar deficiencies. Some of the father’s or mothers with normal appearance found retinal scar or benign retinocellular carcinoma, indicating that they are carriers of the mutant Rd gene. The results show that the original Rb gene mutations mainly from the father and passed on to offspring.