论文部分内容阅读
据《新英格兰医学杂志》(The New England Journal of Medicine)报道,Bianchi DW和她的同事们向人们展示了DNA测序如何能以惊人的准确率帮助检测到多余的染色体。该报道开启了胎儿DNA检测的新时代。DNA测序已经以一种戏剧性的全新方式进入了医疗界:在早早孕时期检测染色体缺陷。胎儿的DNA痕迹可以通过怀孕母亲的血液来进行检测,然而这些痕迹非常之小,而且到目前为止,尚没有技术来检测到DNA正常的多余染色体。现代技术的发展,使这一想法变为现实。采用的检测三体变异的方法是2011年Amy Aehnert及其同事的研究成果(注:使用的是一种名为Bowtie的软件项目来进行分析),利用现代测序仪器能在短短几小时内对数百万DNA小碎片进行采样。可以使用计算机分析法来确定哪些碎片来自于胎儿,以及哪些碎片来自于哪条染色体。
According to The New England Journal of Medicine, Bianchi DW and her colleagues show how DNA sequencing can help detect unwanted chromosomes with surprising accuracy. The report opens a new era in fetal DNA testing. DNA sequencing has entered the medical community in a dramatically new way: to detect chromosomal defects during early pregnancy. Fetal DNA traces can be detected by the blood of pregnant mothers, however, these traces are very small, and so far, there is no technology to detect DNA normal redundant chromosomes. The development of modern technology has made this idea a reality. The method used to detect trisomy variation was the result of research by Amy Aehnert and colleagues in 2011 (Note: a software project called Bowtie was used for analysis) that can be used in just a few hours with modern sequencing instruments Millions of DNA fragments are sampled. Computer analysis can be used to determine which fragments came from the fetus and which fragments came from which chromosome.