摘要
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。
Gene sequencing technologies have undergone the development from the initial Sanger sequencing to modem single molecule sequencing since the last 30 years. Nowadays, Sanger sequencing has gradually been replaced by fluorescence in situ hybridization （FISH）, comparative genomic hybridization （CGH）, and microarray technology due to its low throughput and slow speed. As a new method for preimplataion genetic diagnosis （PGD）, next-generation sequencing （NGS） not only can be applied to the detection of chromosomal aneuploidy, chromo- somal structure abnormalities and single gene diseases, but also has higher prec^stoia and avoids the affection of probes. Mutated allele revealed by sequencing with aneuploidy and linkage analyse （MARSALA）, a new technology based on NGS, has advantages for detecting chromosomal disorders and single gene disorders simultaneously. This review summarizes the developmental process of gene sequencing technologies and their applications in PGD, sums up the advantages and limitations ofNGS technologys including MALBAC amplification technology and MARSALA technology which were built up recently when applied to NGS.
出处
《生殖与避孕》
CAS
CSCD
北大核心
2016年第8期666-671,共6页
Reproduction and Contraception
