Akdeniz Odemis Demet, Tuncer Seref Bugra, Adamnejad Ghafour Arash, Jabbarli Khariga, Gider Yasemin, Celik Betul, Kuru Turkcan Gozde, Sukruoglu Erdogan Ozge, Kilic Erciyas Seda, Avsar Mukaddes, Kebudi Rejin, Buyukkapu Bay Sema, Tuncer Samuray, Yazici Hulya
Istanbul University, Oncology Institute, Department of Basic Oncology, Division of Cancer Genetics, Istanbul, Turkey.
Istanbul University, Oncology Institute, Division of Pediatric Hematology-Oncology, Istanbul, Turkey.
J Oncol. 2020 Dec 30;2020:9401038. doi: 10.1155/2020/9401038. eCollection 2020.
Various molecular variations are known to result in different gene variants in the gene, known for its oncogenic transformation activity. The goal of this study was to investigate the p.Gly388Arg variant that plays role in the progression of cancer and retinal growth and may be an effective candidate variant in the Turkish population in retinoblastoma patients with no gene mutation.
Using the Sanger sequencing methods, the p.Gly388Arg variant was bidirectionally sequenced in 49 patients with non- gene mutation in retinoblastoma patients and 13 healthy first-degree relatives and 146 individuals matched by sex and age in the control group.
In Turkish population-specific study, the p.Gly388Arg variant was found in 27 (55.1 percent) of 49 patients; mutation was found in 7 (53.8 percent) of these patients' 13 healthy relatives screened. When p.Gly388Arg mutation status is evaluated in terms of 146 healthy controls, in 70 (47.9 percent) individuals, mutation was observed. Our analysis showed that the p.Gly388Arg allele frequency, which according to different databases is seen as 30 percent in the general population, is 50 percent common in the Turkish population.
In patients with advanced retinoblastoma who were diagnosed with retinoblastoma prior to 24 months, the p.Gly388Arg allele was found to be significantly higher. As a result, these results indicate that the polymorphism of p.Gly388Arg may play a role in both the development of tumors and the progression of aggressive tumors.
已知多种分子变异会导致该基因产生不同的基因变体，该基因具有致癌转化活性。本研究的目的是调查p.Gly388Arg变体，其在癌症进展和视网膜生长中起作用，并且可能是土耳其人群中无基因突变的视网膜母细胞瘤患者的有效候选变体。
使用桑格测序方法，对49例视网膜母细胞瘤患者中无该基因突变的患者、13名健康的一级亲属以及对照组中146名年龄和性别匹配的个体进行双向测序，检测p.Gly388Arg变体。
在土耳其人群特异性研究中，49例患者中有27例（55.1%）发现了p.Gly388Arg变体；在这些患者的13名接受筛查的健康亲属中，有7例（53.8%）发现了突变。当根据146名健康对照评估p.Gly388Arg突变状态时，在70例（47.9%）个体中观察到了突变。我们的分析表明，根据不同数据库，p.Gly388Arg等位基因频率在一般人群中为30%，在土耳其人群中为50%，较为常见。
在24个月前被诊断为视网膜母细胞瘤的晚期视网膜母细胞瘤患者中，发现p.Gly388Arg等位基因明显更高。因此，这些结果表明p.Gly388Arg的多态性可能在肿瘤发生和侵袭性肿瘤进展中都起作用。
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