TitleClinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy
AuthorsRen, 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
AffiliationPeking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100091, Peoples R China.
Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China.
Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China.
Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China.
Peking Univ, Hosp 3, Dept Obstet & Gynecol, Beijing 100091, Peoples R China.
Qiao, J
Yan, LY (reprint author), Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China.
Qiao, J
Yan, LY (reprint author), Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China.
Qiao, J (reprint author), Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China.
KeywordsPreimplantation 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
Issue Date2016
PublisherJOURNAL OF GENETICS AND GENOMICS
CitationJOURNAL OF GENETICS AND GENOMICS.2016,43(9),541-547.
AbstractConventional 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.
URIhttp://hdl.handle.net/20.500.11897/492987
ISSN1673-8527
DOI10.1016/j.jgg.2016.03.011
IndexedSCI(E)
PubMed
中国科技核心期刊(ISTIC)
Appears in Collections:第三医院
生命科学学院

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