Clinical applications of MARSALA for preimplantation genetic diagnosis   of spinal muscular atrophy

doi:10.1016/j.jgg.2016.03.011

CORC > 北京大学 > 生命科学学院

	Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy
	Ren, Yixin ; Zhi, Xu ; Zhu, Xiaohui ; Huang, Jin ; Lian, Ying ; Li, Rong ; Jin, Hongyan ; Zhang, Yan ; Zhang, Wenxin ; Nie, Yanli ; Wei, Yuan ; Liu, Zhaohui ; Song, Donghong ; Liu, Ping ; Qiao, Jie ; Yan, Liying
刊名	JOURNAL OF GENETICS AND GENOMICS
	2016
关键词	Preimplantation genetic diagnosis Spinal muscular atrophy Next-generation sequencing Mutated allele revealed by sequencing with aneuploidy and linkage analyses MONOGENIC DISEASES LIVE BIRTHS PGD AMPLIFICATION DISORDERS EMBRYOS CARRIER UPDATE ISSUES SMN1
DOI	10.1016/j.jgg.2016.03.011
英文摘要	Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wildtype embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing (NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously. In this study, we carried out PGD based on MARSALA for two carrier families with SMA affected children. As a result, one of the couples has given birth to a healthy baby free of mutations in SMA-causing gene. It is the first time that MARSALA was applied to PGD for SMA, and we can distinguish the embryos with heterozygous deletion (carriers) from the wild-type (normal) ones accurately through this NGS-based method. In addition, direct mutation detection allows us to identify the affected embryos (homozygous deletion), which can be regarded as probands for linkage analysis, in case that the affected family member is absent. In the future, the NGS-based MARSALA method is expected to be used in PGD for all monogenetic disorders with known pathogenic gene mutation. Copyright (C) 2016, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.; National Natural Science Foundation of China [31522034, 31571544, 31230047]; National High Technology Research and Development Program [2015AA020407]; Beijing Municipal Science and Technology Commission [D151100002415004]; Research Fund of National Health and Family Planning Commission of China [201402004]; SCI(E); PubMed; 中国科技核心期刊(ISTIC); ARTICLE; jie.qiao@263.net; yanliyingkind@aliyun.com; 9; 541-547; 43
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/492987]
专题	生命科学学院
推荐引用方式 GB/T 7714	Ren, Yixin,Zhi, Xu,Zhu, Xiaohui,et al. Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy[J]. JOURNAL OF GENETICS AND GENOMICS,2016.
APA	Ren, Yixin.,Zhi, Xu.,Zhu, Xiaohui.,Huang, Jin.,Lian, Ying.,...&Yan, Liying.(2016).Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy.JOURNAL OF GENETICS AND GENOMICS.
MLA	Ren, Yixin,et al."Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy".JOURNAL OF GENETICS AND GENOMICS (2016).