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A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma

机译：检测RB1基因突变的综合，敏感，经济的方法

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Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1. The strategy used was to detect large deletions/duplications by fluorescent quantitative multiplex PCR; small deletions/insertions by fluorescent genotyping of RB1 alleles, and point mutations by PCR-RFLP and sequencing. Genomic DNA from the peripheral blood leucocytes of 74 Rb patients (53 with bilateral Rb, 21 with unilateral Rb; 4 familial cases) was screened for mutations. Recurrent mutations were identified in five patients with bilateral Rb, large deletions in 11 patients (nine with bilateral Rb and two with unilateral Rb), small deletions/insertions were found in 12 patients all with bilateral Rb, and point mutations in 26 patients (14 nonsense, six splice site, five substitution and one silent change). Three mutations were associated with variable expressivity of the disease in different family members. Using this method, the detection rates achieved in patients with bilateral Rb were 44/53 (83%) and with unilateral Rb, 5/21 (23.8%). This approach may be feasible for clinical genetic testing and counselling of patients.
机译：视网膜母细胞瘤（RB）是儿童中最常见的主要眼内恶性肿瘤。通过在显影视网膜中的RB1基因等位基因的突变失活来引起。为了鉴定RB1突变，我们通过筛选出口和RB1的启动子区分析了74名视网膜母细胞瘤患者。使用的策略是通过荧光定量多重PCR检测大缺失/重复性;通过RB1等位基因的荧光基因分型小缺失/插入，并通过PCR-RFLP和测序点突变。筛选来自74个RB患者的外周血白细胞的基因组DNA（53例，用双侧RB，21例，单侧RB; 4个家族病例）进行突变。在5例双侧RB患者中鉴定了复发突变，11名患者的大缺失（九个具有单侧RB，两侧RB），在12名患者中发现了小缺失/插入，其中2例患者，26例患者中的点突变（14胡说八道，六个拼接网站，五个替代和一个沉默的变化）。三种突变与不同家庭成员的疾病的可变富有变性相关。使用该方法，双侧Rb患者达到的检测率为44/53（83％），单侧Rb，5/21（23.8％）。这种方法对于患者的临床遗传测试和咨询可能是可行的。

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