Abstract：
:Pre-implantation genetic diagnosis (PGD) is a powerful clinical tool to identify embryos with or at risk of specific genetic diseases before implantation in utero after in vitro fertilization (IVF). PGD is performed on embryo biopsies that are obtained by aspiration of one or two cells from pre-implantation embryos at day 3 or day 5/6 of culture. However this is a traumatic method that cannot be avoided because non-invasive procedures to assess the genetic status of pre-implantation embryos are not available yet. We hypothesize that cell-free nucleic acids, which are released by embryos in the culture medium during the IVF procedure, could be used for genetic screening. To test our hypothesis we will focus first on X-linked disorders because these single-gene diseases due to the presence of defective genes on the X chromosome are dominant in males. Therefore the objective here is to discriminate between female (XX) and male (XY) embryos by detecting Y chromosome-specific sequences in cell-free nucleic acids. Using culture medium from embryos we are able to discriminate between male and female embryos. This opens new avenues for the development of a non-invasive PGD method.
journal_name
Med Hypothesesjournal_title
Medical hypothesesauthors
Assou S,Aït-Ahmed O,El Messaoudi S,Thierry AR,Hamamah Sdoi
10.1016/j.mehy.2014.08.019subject
Has Abstractpub_date
2014-10-01 00:00:00pages
506-8issue
4eissn
0306-9877issn
1532-2777pii
S0306-9877(14)00303-Xjournal_volume
83pub_type
杂志文章abstract：:Genetic linkage studies and genome wide analysis have provided insights into complex medical diseases. Mycobacterium avium ss. paratuberculosis (MAP) causes Johne's disease, an important enteric inflammatory disease mostly studied in ruminant animals. MAP is also the putative cause of Crohn's disease. Moreover, MAP ha...
journal_title：Medical hypotheses
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journal_title：Medical hypotheses
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journal_title：Medical hypotheses
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journal_title：Medical hypotheses
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journal_title：Medical hypotheses
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journal_title：Medical hypotheses
pub_type： 杂志文章
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更新日期：2013-08-01 00:00:00
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journal_title：Medical hypotheses
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pub_type： 杂志文章
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更新日期：2021-01-01 00:00:00
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journal_title：Medical hypotheses
pub_type： 杂志文章
doi：10.1016/0306-9877(89)90106-0
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journal_title：Medical hypotheses
pub_type： 杂志文章
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journal_title：Medical hypotheses
pub_type： 杂志文章
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更新日期：2013-04-01 00:00:00
