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首页> 外文期刊>Journal of human genetics >New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.
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New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications.

机译：塞尔维亚视网膜母细胞瘤患者的新RB1致癌突变和内含子多态性：遗传咨询的意义。

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摘要

The purpose of this work was to identify germ line RB1 mutations in 16 Serbian retinoblastoma patients for genetic counselling. Mutation analysis was carried out by PCR directed sequencing of the 27 exons. Loss of heterozygosity for two RB1 intragenic markers was also analyzed in 14 tumour samples. Five new RB1 oncogenic mutations (g.2078 del C, g.77047_48 del GC, g.78117_8 del TT, g.160797 del T, and g.64439+2 T>C) and two recurrences (R445X and Q383X) have been found in this study. In addition, four intronic variants were observed germ line in some unilateral patients. Two of these variants (g.44668-15T/G, and g.166204-8T/A) are discussed as potential oncogenic mutation candidates. The results show the relevance of studies aimed to investigate the role of intronic variants in exon splicing regulation. Such studies will help to disclose hidden retinoblastoma susceptibilities, important for accurate genetic counselling.
机译：这项工作的目的是鉴定16名塞尔维亚视网膜母细胞瘤患者的生殖系RB1突变，以进行遗传咨询。突变分析通过27个外显子的PCR定向测序进行。还分析了14个肿瘤样品中两个RB1基因标记的杂合性丧失。已经发现了五个新的RB1致癌突变（g.2078 del C，g.77047_48 del GC，g.78117_8 del TT，g.160797 del T和g.64439 + 2 T> C）和两个重复序列（R445X和Q383X）在这项研究中发现。另外，在一些单方面患者中观察到四个内含子变体。这些变体中的两个（g.44668-15T / G和g.166204-8T / A）被讨论为潜在的致癌突变候选物。结果表明，旨在研究内含子变异体在外显子剪接调控中的作用的研究具有相关性。此类研究将有助于揭示隐藏的视网膜母细胞瘤敏感性，这对于准确的遗传咨询非常重要。

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