Munier F L, Thonney F, Balmer A, Héon E, Pescia G, Schorderet D F
Hôpital Ophtalmique Jules Gonin, Lausanne.
Klin Monbl Augenheilkd. 1996 May;208(5):400-3. doi: 10.1055/s-2008-1035252.
The parental origin of initial somatic and germline mutations (M1) in the retinoblastoma gene (RB1) was explored in 36 retinoblastoma (Rb) and 5 retinoma patients, of which 16 were presumably non-hereditary and 25 were hereditary. By this approach the male:female mutation ratio was determined by the gender quotient of mutation origin.
The male to female mutation ratio in hereditary Rb was 19:2, which is consistent with a significant bias towards paternal origin of germline mutation. This ratio was of 5:2 in non-hereditary Rb which is not significant.
Together with the published data, these results support a preferential paternal mutagenesis in hereditary Rb, but appear to reject paternal genomic imprinting at the RB1 locus as previously proposed in non-hereditary Rb. Genetic counseling in sporadic Rb may be substantially improved by the identification of the parental origin of initial mutation.
在36例视网膜母细胞瘤（Rb）患者和5例视网膜细胞瘤患者中探索视网膜母细胞瘤基因（RB1）初始体细胞和生殖系突变（M1）的亲本来源，其中16例可能为非遗传性，25例为遗传性。通过这种方法，根据突变起源的性别商数确定男性与女性的突变率。
遗传性Rb中男性与女性的突变率为19:2，这与生殖系突变的父系起源存在显著偏向一致。在非遗传性Rb中该比例为5:2，无显著意义。
这些结果与已发表的数据一起，支持遗传性Rb中优先发生父系诱变，但似乎否定了先前在非遗传性Rb中提出的RB1基因座的父系基因组印记。通过鉴定初始突变的亲本来源，散发性Rb的遗传咨询可能会得到显著改善。
