Abstract:
:Charcot-Marie-Tooth (CMT) disease is the 'common' name for a range of hereditary peripheral neuropathies. CMT1 is the most common form and is transmitted in an autosomal dominant manner. CMT1A maps to chromosome 17p11.2 and is caused, in the majority of cases, by a 1.5 Mb DNA duplication, that includes the peripheral myelin protein 22 (PMP) gene. This paper reports on preimplantation genetic diagnosis (PGD) for CMT1A in five couples. The CMT1A duplication was detected by fluorescent PCR analysis using polymorphic (CA)n markers localized within the duplication. Single-cell PCR on blastomeres allowed genetic analysis of embryos obtained after ICSI. Only healthy unaffected embryos were transferred to the uterus. PCR experiments with single EBV-transformed lymphoblasts or with research blastomeres allowed the evaluation of amplification efficiencies, as well as contamination and allele drop-out (ADO) rates for each PCR protocol. Three simplex PCR protocols (using one primer pair) and two duplex PCR protocols (using two primer pairs) were developed for CMT1A. Additionally, a protocol using all three primer pairs in triplex was also established. Thirteen clinical ICSI-PGD cycles were performed for five couples (12 simplex PCR cycles and one duplex PCR cycle), resulting in seven embryo transfers. Three singleton pregnancies ensued in two couples and three healthy babies were delivered. This report describes different fluorescent PCR-based tests which allow efficient and accurate single-cell level detection of the CMT1A duplication. On the basis of the presence of the healthy allele of the affected parent-to-be (and/or absence of the affected one), healthy embryos can be selected for transfer. The assays are suitable for PGD for other couples who present with the same CMT1A duplication [depending on their informativity for the (CA)n markers available] as described here.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
De Vos A,Sermon K,De Rijcke M,Goossens V,Henderix P,Van Ranst N,Platteau P,Lissens W,Devroey P,Van Steirteghem A,Liebaers Idoi
10.1093/molehr/gag054subject
Has Abstractpub_date
2003-07-01 00:00:00pages
429-35issue
7eissn
1360-9947issn
1460-2407journal_volume
9pub_type
杂志文章abstract:STUDY QUESTION:Does A20 regulate mediators involved in the terminal processes of human labour in primary myometrial and amnion cells? SUMMARY ANSWER:A20 is a nuclear factor-kappa B (NF-κB) responsive gene that acts as a negative regulator of NF-κB-induced expression of pro-labour mediators. WHAT IS KNOWN ALREADY:Infl...
journal_title:Molecular human reproduction
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abstract::The major regulators of endometrial function are oestrogen and progesterone, which act through binding their nuclear receptors and by activating transcription of their target genes. Interactions between steroid receptors and transcription proteins, e.g. c-JUN/AP-1, can modulate steroid action at the transcriptional le...
journal_title:Molecular human reproduction
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abstract::A major challenge in the comprehension of the endometrial transformations leading to the completion of each menstrual cycle in humans is in the identification of specific molecular pathways underlying these monthly turnovers. Towards this goal we compared, by the differential display technique, the relative expression...
journal_title:Molecular human reproduction
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abstract::Glutathione S-transferase M1 (GSTM1), one member of the GST family, is responsible for metabolism of xenobiotics and carcinogens. Myeloperoxidase (MPO) plays an important role in the oxidation and activation of carcinogens and nitric oxide. Allelic variants of GSTM1 and MPO gene polymorphisms might impair detoxificati...
journal_title:Molecular human reproduction
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abstract::Although many candidate genes have been studied in pre-eclampsia (PE), the important class of catecholamine receptors that contribute to sympathetic tone and blood pressure regulation has yet to be investigated. We therefore examined the dopamine D4 receptor (DRD4) gene. We performed a prospective family-based study i...
journal_title:Molecular human reproduction
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journal_title:Molecular human reproduction
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journal_title:Molecular human reproduction
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journal_title:Molecular human reproduction
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journal_title:Molecular human reproduction
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journal_title:Molecular human reproduction
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doi:10.1093/molehr/gau071
更新日期:2015-01-01 00:00:00
abstract::In mature mammalian oocytes, cortical f-actin distribution is polarized, as evidenced by a prominent cap subtended by the metaphase II (MII) spindle. Formation of a polarized actin cap is a consequence of a complex actomyosin-driven contractile process that directs polar body extrusion. Human mature oocytes also displ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat085
更新日期:2014-03-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar036
更新日期:2011-11-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2014-12-01 00:00:00
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journal_title:Molecular human reproduction
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更新日期:2019-11-30 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.12.1079
更新日期:2002-12-01 00:00:00
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journal_title:Molecular human reproduction
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doi:10.1093/molehr/gar015
更新日期:2011-07-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2011-07-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gas041
更新日期:2013-03-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2014-05-01 00:00:00
abstract::Ever since work on pluripotency induction was originally published, reporting the reprogramming of somatic cells to induced pluripotent stem cells (iPS cells) by the ectopic expression of the four transcription factors Oct4, Sox2, Klf4 and c-Myc, high expectations regarding their potential use for regenerative medicin...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
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更新日期:2010-11-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau059
更新日期:2014-10-01 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2020-12-10 00:00:00
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journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.12.1053
更新日期:1997-12-01 00:00:00
abstract::Deletions of the AZFc interval of the human Y chromosome are found in >5% of male patients with idiopathic infertility and are associated with a severely reduced sperm count. The most common deletion type is large (>1 Mb) and removes members of the Y-borne testis-specific gene families of BPY2, CDY1, DAZ, PRY, RBMY2 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
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更新日期:2000-09-01 00:00:00
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journal_title:Molecular human reproduction
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更新日期:2007-11-01 00:00:00
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journal_title:Molecular human reproduction
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更新日期:1999-08-01 00:00:00
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journal_title:Molecular human reproduction
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更新日期:1997-01-01 00:00:00
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更新日期:2002-02-01 00:00:00