Rodríguez Maricela, Salcedo Mauricio, González Marina, Coral-Vazquez Ramón, Salamanca Fabio, Arenas Diego
Laboratorio de Metabolismo de Lípidos, Unidad de Investigación en Nutrición, Hospital de Pediatría, D.F., México, Mexico.
Cancer Genet Cytogenet. 2002 Oct 1;138(1):27-31. doi: 10.1016/s0165-4608(02)00577-0.
Retinoblastoma (RB) is a childhood tumor of the eye with an average incidence of one case in every 15,000-20,000 live births and occurs in sporadic or hereditary form. This cancer results from loss or inactivation of the RB1 gene located at 13q14.1. This gene encodes for a 110 Kd nuclear phosphoprotein (pRB) that plays a major role in cell proliferation control. Different types of mutations in the RB1 gene have been reported, but point mutations are the most common. There are no molecular studies on RB1 gene mutation in Mexican patients. In this study, 19 patients with bilateral or unilateral RB were analyzed. Genetic and cytogenetic studies were carried out. Detection of RB1 gene mutations was done using single-strand conformational polymorphism (SSCP). Five conformational polymorphisms were identified in different exons. In all cases, SSCP sequence showed new non-described mutations that produced a frameshift on the open reading frame. The identification of mutations in the RB1 gene contributes to basic knowledge of this neoplasia and permits the possibility to offer adequate genetic counseling to relatives at risk.
视网膜母细胞瘤（RB）是一种儿童眼部肿瘤，平均发病率为每15000 - 20000例活产儿中有1例，以散发性或遗传性形式出现。这种癌症是由位于13q14.1的RB1基因缺失或失活引起的。该基因编码一种110 Kd的核磷蛋白（pRB），在细胞增殖控制中起主要作用。已报道RB1基因存在不同类型的突变，但点突变最为常见。墨西哥患者中尚无关于RB1基因突变的分子研究。在本研究中，对19例双侧或单侧RB患者进行了分析。进行了基因和细胞遗传学研究。使用单链构象多态性（SSCP）检测RB1基因突变。在不同外显子中鉴定出5种构象多态性。在所有病例中，SSCP序列均显示出新的未描述突变，这些突变在开放阅读框上产生了移码。RB1基因突变的鉴定有助于了解这种肿瘤的基础知识，并为有风险的亲属提供适当的遗传咨询。
