Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis

被引：0
作者：
Akira Nakabayashi
Kou Sueoka
Hiroto Tajima
Kenji Sato
Yoshiaki Sakamoto
Shingo Katou
Yasunori Yoshimura
机构：
[1] Keio University School of Medicine,Department of Obstetrics and Gynecology
[2] Keio University School of Medicine,Department of Microbiology and immunology
来源：
Journal of Assisted Reproduction and Genetics | 2007年 / 24卷
关键词：
DMD; A single cell; Duplication; Real-time PCR; Quantification;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Purpose: Preimplantation genetic diagnosis (PGD) has been performed for deletion and point mutation type of Duchenne muscular dystrophy (DMD). Our aim was to develop a PGD technique, not yet established, to directly detect duplication mutation instead of substitute diagnosis similar to gender determination.
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页码：233 / 240
页数：7
相关论文
共 94 条
[1]  
Roberts RG(1995)Dystrophin, its gene, and the dystrophinopathies Adv Genet 33 177-231
[2]  
Matsuo M(2002)Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy IUBMB Life 53 147-52
[3]  
Kapsa R(2003)Novel therapies for Duchenne muscular dystrophy Lancet Neurol 2 299-310
[4]  
Kornberg AJ(1987)Dystrophin: the protein product of the Duchenne muscular dystrophy locus Cell 51 917-28
[5]  
Byrne E(1989)Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications Am J Hum Genet 45 835-47
[6]  
Hoffman EP(1995)The human dystrophin gene requires 16 h to be transcribed and its contranscriptionally spliced Nature Genet 9 184-90
[7]  
Brown RH(2002)Preimplantation genetic diagnosis Nat Rev Genet 3 941-55
[8]  
Kunkel LM(1985)Enzymatic amplification of b-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia Science 230 1350-4
[9]  
den Dunnen JT(1990)Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification Nature 344 768-70
[10]  
Grootscholten PM(1992)Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis N Engl L Med 327 905-9
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