Blanquet V, Turleau C, Gross-Morand M S, Sénamaud-Beaufort C, Doz F, Besmond C
INSERM U.383, Hôpital Necker Enfants Malades, Paris, France.
Hum Mol Genet. 1995 Mar;4(3):383-8. doi: 10.1093/hmg/4.3.383.
Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. We have performed a mutation survey of the RB1 gene in 232 patients with hereditary or non hereditary retinoblastoma. We systematically explored all 27 exons and flanking sequences as well as the promotor. All types of point mutations are represented and are found unequally distributed along the RB1 gene sequence. In the population we studied, exons 3, 8, 18 and 19 are preferentially altered. The range of frequency of detection of germline mutations is about 20%, indicating that other mechanisms of inactivation of RB1 should be involved. The spectrum of mutations presented here should help to improve the clinical management of retinoblastoma and to understand the molecular mechanisms leading to tumorigenesis.
RB1基因的种系突变赋予视网膜母细胞瘤遗传易感性。我们对232例遗传性或非遗传性视网膜母细胞瘤患者的RB1基因进行了突变检测。我们系统地探究了所有27个外显子、侧翼序列以及启动子。所有类型的点突变均有出现，并且在RB1基因序列上分布不均。在我们研究的人群中，外显子3、8、18和19更容易发生改变。种系突变的检测频率范围约为20%，这表明RB1的其他失活机制也应参与其中。本文呈现的突变谱应有助于改善视网膜母细胞瘤的临床管理，并了解导致肿瘤发生的分子机制。
