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经过30多年的发展,基因测序技术已从最初的Sanger测序发展至当今以单分子测序为特点的测序。早期的Sanger测序可应用于单基因疾病的检测,但其可检测的通量小、速度慢,逐渐被荧光原位杂交(FISH)、比较基因组杂交(CGH)、芯片检测技术等取代。下一代测序(nextgeneration sequencing,NGS)技术作为胚胎植入前遗传学诊断(preimplataion genetic dignosis,PGD)的新检测手段,不仅能检测染色体非整倍性、染色体结构异常以及单基因疾病,而且精度更高,弥补了芯片检测易受探针影响的缺陷。新近建立的基于N G S的非整倍体测序与连锁分析(mutated allele revealed by sequencing with aneuploidy and linkage analyses,MARSALA)技术可以同时检测染色体疾病和单基因疾病。本文概述了基因测序技术的发展进程及其在PGD中的应用,介绍了包括近年开发的多重退火环状循环扩增(MALBAC)技术和MARSALA在内的NGS技术应用于PGD的优点和局限。
After more than 30 years of development, gene sequencing technology has evolved from the original Sanger sequencing to the current single-molecule sequencing sequencing. Early Sanger sequencing can be applied to the detection of single gene diseases, but its detectable flux is small and slow, and gradually replaced by fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH), chip detection technology. As a new detection method of preimplantation genetic dignosis (PGD), next generation sequencing (NGS) technology not only detects chromosomal aneuploidy, chromosomal structural abnormalities and single gene diseases, but also has more accuracy High, to make up for the chip detection vulnerability to defects in the probe. Recently established mutated allele revealed by sequencing with aneuploidy and linkage analyzes (MARSALA) technique can simultaneously detect chromosomal and monogenic diseases. This article summarizes the progress of gene sequencing technology and its application in PGD. The advantages and limitations of the application of NGS including MALBAC and MARSALA in PGD are introduced.