Single molecule DNA sequencing in gold.

人类基因组包含316470万个核酸碱基（腺嘌呤、鸟嘌呤、胞嘧啶、胸腺嘧啶），据估计，单个细胞中所有DNA链的长度（如果所有DNA链首尾相连）约为两米。人类基因组序列在千禧年之初完成；这引起了公众和科学界对理解DNA序列“密码”及其“翻译”方式的极大兴趣。基因组序列提供了关于我们的祖先、遗传性疾病、我们的特征（如眼睛、皮肤或头发的颜色）和我们的生理“化妆”的信息。为了真正了解基因组序列，希望有更简单的DNA测序方法，以便对更多的基因组进行测序。目前的方法需要昂贵的试剂，费力且耗时长。尽管人类基因组的测序早在十年前就完成了，而且更好的DNA测序方法也已经开发出来，但一种简单、廉价、快速、准确的DNA测序方法仍然是一个重要的目标。在我们看来，我们需要的是一种小规模的技术，一种像硬盘驱动器一样工作的技术，在这种技术中，一个微小的读头被扫描过存储的信息（DNA链），信息（序列）被直接读取，而不需要对基因组DNA分子进行任何复杂的处理。我们建议让DNA分子流过一个纳米孔，这个纳米孔将充当“读头”，通过DNA序列对激光激发的反应来检测和识别DNA序列中的核酸。用这种方法鉴定DNA碱基序列将是高度精确的，并且能够检测环境或细胞过程对特定碱基的损伤或修饰，这些过程可以控制基因的开关。DNA测序技术对于更好地了解所有生物体至关重要，而不仅仅是人类，一种快速、廉价的DNA测序方法将能够回答更多的问题，同时也提供了一种诊断工具。这些研究将为证明一种全新的DNA测序方法提供适当的概念证明数据。

The human genome contains 3164.7 million nucleic acid bases (adenine, guanine, cytosine, thymine) and it is estimated that the length of all the DNA strands in a single cell (if all the strands were placed end to end) is about two metres. The human genome sequence was completed at the start of the millennium; this resulted in significant public and scientific interest in understanding the DNA sequence 'code' and how it is 'translated'. The sequence of the genome provides information about our ancestry, hereditary diseases, our features (such as eye, skin or hair colour) and our physiological 'make-up'. In order to truly understand the genome sequence it would be desirable to have simpler DNA sequencing methods so that many more genomes could be sequenced. Currently, methods require expensive reagents, are laborious and take a long time. Despite the fact that the human genome was sequenced a decade ago and better DNA sequencing methods have been since developed, a simple, cheap, fast, accurate DNA sequencing method is still an important goal. In our view, what is needed is a small scale technology, something that works like a hard disk drive, where a tiny read head is scanned past the stored information (the DNA strand) and the information (the sequence) is read directly without need for any complex processing of the genomic DNA molecule. We propose to flow DNA molecules through a nanopore that will act as a 'read head' and detect and identify the nucleic acids in the DNA sequence by their response to laser excitation. Identifying the DNA base sequence in this way will be highly ac curate, and capable of detecting damage or modification to particular bases from environmental or cellular processes which can control the switching on and off of genes. DNA sequencing techniques are crucial to obtain a better understand of all organisms, not just humans, and a fast, cheap DNA sequencing method will be able to answer many more questions as well as also provide a diagnostic tool. These studies will provide proof of concept data appropriate to demonstrate a very new DNA sequencing approach.