【科技日报北京7月28日电】（记者张梦然）在遗传疾病的诊断领域，一项革命性技术的问世正为患者带来新的希望。沙特阿卜杜拉国王科技大学的研究团队成功开发出名为NanoRanger的创新方法，该技术可在几个小时内完成对孟德尔遗传病的基因检测，大幅缩短了传统诊断流程需要的6年时间。这一突破性进展，不仅改变了遗传疾病诊断的格局，也为全球的医疗健康领域注入了新的活力。
孟德尔遗传病，包括运动系统、神经系统和智力发育障碍，是由特定基因变异引起的疾病。传统诊断方法往往需要长时间的筛查过程，而NanoRanger的出现，通过简化分子生物学策略，对疑似存在复杂突变、缺失或重排的基因组区域进行精准定位。其成本效益高、操作简单，仅需少量DNA样本，使得这一技术对广大患者群体更具可及性。
NanoRanger的工作原理基于分子剪刀——限制性酶的作用，将DNA切割成具有相同末端序列的片段，然后这些片段自我连接成环并进行扩增。通过长读测序技术，研究人员能够更容易地定位和测序受关注的基因组区域。定制化的数据分析工具进一步提高了断点的精确度，使NanoRanger能够在初次测序后短短12分钟内完成诊断，且能够提供高度详细的遗传图像。
这一技术的成功应用，不仅提高了诊断的准确率，还大幅缩短了确诊时间，对全球超过一半难以得到准确分子诊断的疑似孟德尔遗传病患者来说，是重大的福音。NanoRanger不仅在确诊速度上取得了显著提升，还成功确定了13个家族性基因组疾病病例中的精确断点，填补了传统基因测试的空白。其在风险家庭成员和健康个体中的筛查应用，更是展现了技术的实际价值，避免了遗传疾病的传播，为家庭健康带来了积极影响。
NanoRanger的问世，标志着遗传疾病诊断领域的一次重大突破，为患者提供了更快、更准确的诊断方式，同时也为遗传病的预防和治疗提供了新的可能性。这一创新技术不仅改变了医学诊断的现状，也为未来的遗传疾病研究和治疗带来了无限的潜力。
英语如下：
Headline: “NanoRanger Technology: Accelerating Genetic Disease Diagnosis to Hours”
Keywords: Genetic diseases, Diagnosis speed, NanoRanger
Content: [July 28, Beijing] (Zhang Mengran, reporter) – A revolutionary technology has brought new hope to patients in the field of genetic disease diagnosis. A research team at King Abdullah University of Science and Technology has successfully developed the innovative NanoRanger method, which can complete gene testing for Mendelian genetic diseases within hours, significantly reducing the traditional diagnostic process that required six years. This breakthrough not only reshapes the landscape of genetic disease diagnosis but also invigorates the global healthcare sector.
Mendelian genetic diseases, including those affecting the musculoskeletal system, nervous system, and intellectual development, are caused by specific gene mutations. Traditional diagnostic methods often involve lengthy screening processes, whereas NanoRanger simplifies molecular biology strategies to accurately pinpoint regions of the genome that might harbor complex mutations, deletions, or rearrangements. It boasts high cost-effectiveness, simple operation, and requires only a small amount of DNA sample, making the technology more accessible to a broad patient population.
NanoRanger’s operation hinges on molecular scissors – restriction enzymes, which cut DNA into fragments with identical terminal sequences, which then self-connect into loops and amplify. Through long-read sequencing technology, researchers can more easily locate and sequence the targeted genomic regions. Customized data analysis tools further enhance the accuracy of breakpoints, allowing NanoRanger to complete diagnosis in just 12 minutes after initial sequencing, and providing highly detailed genetic images.
The successful application of this technology not only improves diagnostic accuracy but also significantly shortens the time to diagnosis, benefiting over half of the patients worldwide who are suspected of having Mendelian genetic diseases but have been unable to receive accurate molecular diagnosis. NanoRanger not only achieves a significant increase in diagnosis speed but also successfully identifies precise breakpoints in 13 cases of familial genomic diseases, filling the gap in traditional genetic testing. Its application in screening for at-risk family members and healthy individuals demonstrates the practical value of the technology, preventing the spread of genetic diseases and bringing positive impacts to family health.
The introduction of NanoRanger marks a significant breakthrough in the field of genetic disease diagnosis, providing patients with faster and more accurate diagnostic methods, and also offering new possibilities for prevention and treatment of genetic diseases. This innovative technology not only changes the current state of medical diagnosis but also opens up limitless potential for future genetic disease research and treatment.
【来源】http://www.chinanews.com/life/2024/07-29/10259286.shtml
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