【广东会GDH基因检测】NF1基因与神经纤维瘤病1

基因检测多少钱解析

阅读认识到《Am J Epidemiol》在 2000 Jan 1;151(1):33-40发表了一篇题目为《NF1基因与神经纤维瘤病1》肿瘤靶向药物治疗基因检测临床研究文章。该研究由S A Rasmussen, J M Friedman等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及正确治疗临床研究内容关键词：

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肿瘤靶向治疗基因检测临床应用结果

神经纤维瘤病 1 (NF1)，也称为冯雷克林豪森病，是由位于染色体 17q11.2 的 NF1 基因突变引起的常染色体显性遗传病。 NF1 被认为是有效渗透的，但在特征的表达上会发生很大的变化。 NF1的诊断基于既定的临床标准。许多临床特征的表现与年龄有关。 NF1患者的平均预期寿命可能减少10-15年，恶性肿瘤是贼常见的死亡原因。在大多数基于人群的研究中，临床诊断的 NF1 的患病率范围为 1/2,000 至 1/5,000。已在 NF1 患者中发现了多种 NF1 突变，但尚未发现经常发生的突变。大多数研究没有发现特定的 NF1 突变与由此产生的临床表现之间存在明显的关系。 NF1 表型的变异性，即使在具有相同 NF1 基因突变的个体中，也表明其他因素参与确定临床表现，但这些因素的性质尚未确定。 NF1 突变的实验室测试很困难。蛋白质截短测试是可商购的，但其敏感性、特异性和预测价值尚未确定。尚未对 NF1 突变进行一般的、基于人群的分子研究。目前，基于人群的 NF1 临床特征筛查的好处似乎不会超过筛查的成本。

肿瘤发生与反复转移国际数据库描述：

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features is age dependent. The average life expectancy of patients with NF1 is probably reduced by 10-15 years, and malignancy is the most common cause of death. The prevalsence of clinically diagnosed NF1 ranges from 1/2,000 to 1/5,000 in most population-based studies. A wide variety of NF1 mutations has been found in patients with NF1, but no frequently recurring mutation has been identified. Most studies have not found an obvious relation between particular NF1 mutations and the resulting clinical manifestations. The variability of the NF1 phenotype, even in individuals with the same NF1 gene mutation, suggests that other factors are involved in determining the clinical manifestations, but the nature of these factors has not yet been determined. Laboratory testing for NF1 mutations is difficult. A protein truncation test is commercially available, but its sensitivity, specificity, and predictive value have not been established. No general, population-based molecular studies of NF1 mutations have been performed. At this time, it appears that the benefits of population-based screening for clinical features of NF1 would not outweigh the costs of screening.