Abstract:
:We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking into account this technique, we developed a new PGD test for FXS, enabling combined analysis of linked polymorphic markers with the study of the non-expanded CGG repeat. Single cell amplification efficiency was first assessed on single lymphocytes. Amplification rate of the different markers ranged from 85 to 95% with an allele drop-out (ADO) rate comprised between 7 and 34%. Using this test, eight PGD cycles were carried out for six couples, and 37 embryos were analysed after preliminary MDA. Amplification rate was increased by this technique from 41 to 66% so that embryos with no results were rarer (14 versus 45% without MDA). Reliability of the test was considerably improved by combining direct with indirect genetic analysis. Furthermore, in cases of fully expanded alleles too large to be amplified by PCR, this test gives an internal amplification control. Embryonic transfers were carried out in all but one PGD cycles. One biochemical and one clinical pregnancy resulted, and a healthy child was born. This single diagnosis procedure could be suitable to most patients carrying FXS.
journal_name
Mol Hum Reprodjournal_title
Molecular human reproductionauthors
Burlet P,Frydman N,Gigarel N,Kerbrat V,Tachdjian G,Feyereisen E,Bonnefont JP,Frydman R,Munnich A,Steffann Jdoi
10.1093/molehr/gal069subject
Has Abstractpub_date
2006-10-01 00:00:00pages
647-52issue
10eissn
1360-9947issn
1460-2407pii
gal069journal_volume
12pub_type
杂志文章abstract::Recombinant human ZP3 (rhuZP3) generated by Chinese hamster ovary cells transfected with a plasmid containing human ZP3 cDNA was used to study the acrosome reaction (AR) and intracellular calcium fluxes in capacitated human spermatozoa. Conditioned medium containing rhuZP3 significantly induced the AR (P < or = 0.005)...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/2.8.583
更新日期:1996-08-01 00:00:00
abstract::The process of sperm chromatin decondensation occurs when a spermatozoon enters an ovum. Protamine disulphide bonds are reduced to SH and the polycationic protamines combine with the polyanionic egg protein, nucleoplasmin, thus being stripped from DNA which then combines with histones. Defective chromatin decondensati...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.2.133
更新日期:1998-02-01 00:00:00
abstract::The signals initiating the growth of primordial follicles are unknown. Growth factors such as neurotrophin 4/5 (NT-4/5) and brain-derived neurotrophic factor (BDNF) may play a role in this process. To investigate the expression of NT-4/5 and BDNF and their receptor tyrosine kinase B (TrkB) in the early developing foll...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal033
更新日期:2006-06-01 00:00:00
abstract::Preterm premature rupture of the membranes (PPROM) has been considered to be closely associated with chorioamnionitis. However, the detailed mechanism is not well understood. Alpha 1 antitrypsin (AAT) was reported to decrease in concentration in amniotic fluid obtained from patients with PPROM. However, the origin of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan071
更新日期:2009-01-01 00:00:00
abstract:STUDY QUESTION:Can supplementation of media with a glutathione (GSH) donor, glutathione ethyl ester (GEE), prior to vitrification protect the mouse oocyte from oxidative damage and critical changes in redox homeostasis, and thereby improve cryotolerance? SUMMARY ANSWER:GEE supplementation supported redox regulation, r...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaw059
更新日期:2016-12-01 00:00:00
abstract::The non-classical major histocompatibility complex molecule, human leukocyte antigen (HLA)-G, is thought to contribute to maternal immune tolerance and successful placentation during pregnancy. Genetic polymorphisms in HLA-G are known to influence expression levels as well as the relative expression of individual prot...
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
abstract::The pool of primordial follicles in humans is laid down during embryonic development and follicles can remain dormant for prolonged intervals, often decades, until individual follicles resume growth. The mechanisms that induce growth and maturation of primordial follicles are poorly understood but follicles once activ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar083
更新日期:2012-02-01 00:00:00
abstract::We aimed to confirm the ovarian site of gonadotrophin surge-attenuating factor (GnSAF) production and produce granulosa/luteal cell-conditioned medium (G/LCM) containing GnSAF for purification studies. Blue dye affinity chromatography followed by pseudochromatofocusing of G/LCM yielded bioactive fractions at pH 5.74 a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.9.823
更新日期:2002-09-01 00:00:00
abstract::The Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct syndromes which result from lack of expression of imprinted genes within chromosome 15q11-q13. These two syndromes result from 15q11-q13 deletions, chromosome 15 uniparental disomy (UPD), imprinting centre mutations and, for AS, probable mu...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/3.4.321
更新日期:1997-04-01 00:00:00
abstract::Persistent organohalogen pollutants (POPs) have been suggested to be involved in changing the proportion of ejaculated Y-bearing sperm. The androgen receptor (AR), aryl hydrocarbon receptor (AHR) and aryl hydrocarbon receptor repressor (AHRR) may modulate the effect of POPs with regard to previously observed sperm Y:X...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal114
更新日期:2007-04-01 00:00:00
abstract::In Europe up to one in four couples experience difficulty conceiving and in half of these cases the problem has been attributed to sub or infertility in the male partner. The development of assisted reproductive technologies (ART) such as in vitro fertilization and intra-cytoplasmic spermatozoa injection has allowed s...
journal_title:Molecular human reproduction
pub_type: 杂志文章,评审
doi:10.1093/molehr/gam089
更新日期:2008-01-01 00:00:00
abstract::Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening, iatrogenic complication of ovarian stimulation in assisted reproduction technology. This complex syndrome is characterised by enlarged ovaries with multiple corpora luteum, elevated sex steroid hormones in serum and increased capillary permeab...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gaz033
更新日期:2019-08-01 00:00:00
abstract:STUDY QUESTION:Is oxidative stress associated with the A disintegrin and metalloproteases (ADAM) metallopeptidase domain 17 (ADAM17)/Notch signalling pathway and fibrosis in the development of endometriosis? SUMMARY ANSWER:Oxidative stress is correlated with hyperactivation of the ADAM17/Notch signalling pathway and a...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax028
更新日期:2017-07-01 00:00:00
abstract::Artificial oocyte activation to overcome failed fertilization after intracytoplasmic sperm injection (ICSI) in human oocytes typically employs Ca(2+) ionophores to produce a single cytosolic Ca(2+) increase. In contrast, recombinant phospholipase Czeta (PLCζ) causes Ca(2+) oscillations indistinguishable from those occ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gav042
更新日期:2015-10-01 00:00:00
abstract::Placental trophoblast cells are unique endocrine cells that play vital roles during the processes of embryonic implantation and placentation. However, research into the function of human trophoblast has been largely restrained mainly due to a lack of adequate cell models. A normal placenta-origin cytotrophoblast cell ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gal054
更新日期:2006-07-01 00:00:00
abstract::We have investigated the possible roles of oncostatin M (OSM), which is a member of the interleukin-6 family of cytokines, in endometrial and endometriotic stromal cell growth. Endometrial and endometriotic stromal cells were collected from the uterus or ovarian chocolate cysts. We observed the expression of mRNA tran...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/7.7.665
更新日期:2001-07-01 00:00:00
abstract::Several laboratories have independently isolated mitotically active germ cells, termed female germline stem cells or oogonial stem cells (OSCs), from adult mouse ovaries. However, a recent study using Ddx4-Cre;Rosa26 reporter mice concluded that such germ cells do not exist. Given the disparity in conclusions drawn in...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gau071
更新日期:2015-01-01 00:00:00
abstract::Mammalian sperm chromatin is highly condensed, so isolating DNA from such chromatin can be a formidable task. The procedures that produce high quality DNA from somatic cells fail to yield quality sperm DNA. In this study we have modified the previously used guanidinium method to make it simple and efficient in isolati...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/3.11.953
更新日期:1997-11-01 00:00:00
abstract::Human endometrium is the major organ that produces glycodelin A (GdA). The production of endometrial GdA causes a fluctuation of the peripheral glycodelin concentrations in women during the menstrual cycle and pregnancy. It has recently been reported that the rise of plasma concentrations of glycodelin is correlated w...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/5.4.372
更新日期:1999-04-01 00:00:00
abstract::In women with premature ovarian failure, fertility may be preserved by ovarian tissue culture in vitro. However, techniques for tissue culture and follicle maturation have remained suboptimal. Our aim was to characterize ovarian tissue degeneration in cultures and to establish a model for cell death research in cultur...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.3.228
更新日期:2002-03-01 00:00:00
abstract::Successful pregnancy in humans depends on deep invasion of the maternal decidua by extravillous trophoblast cells (EVTs), a process regulated by autocrine and paracrine signals in the decidual-trophoblast microenvironment. Here we examined whether trophoblast invasion is affected by decidual differentiation of endomet...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gar015
更新日期:2011-07-01 00:00:00
abstract::The aim of the present study was to investigate the potential role of Toll-like receptor 4 (TLR4) in lipopolysaccharide (LPS)-induced preterm delivery. Intraperitoneal injection of LPS in the presence or absence of previous TLR4 blockade was performed to establish a murine model of preterm delivery. The incidences of ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gap106
更新日期:2010-04-01 00:00:00
abstract::Morphological assessments are the main way in which fertility clinics select in vitro generated embryo(s) for transfer to the uterus. However, it is widely acknowledged that the microscopic appearance of an embryo is only weakly correlated with its viability. Furthermore, the extent to which morphology is affected by ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gat073
更新日期:2014-02-01 00:00:00
abstract::Analysis of small numbers of chromosomes using interphase fluorescent in-situ hybridization (FISH) probes has revealed that 50% of human preimplantation embryos contain abnormal cells. Detection of high levels of mosaicism with so few probes has led some researchers to extrapolate that a full analysis of all 23 pairs ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/6.11.1055
更新日期:2000-11-01 00:00:00
abstract::Mammalian sperm undergo a series of maturation steps before acquiring fertilization competence. Our previous work demonstrated the importance of binder of sperm (BSP) proteins in bovine sperm capacitation. Recent studies identified a BSP-homologous DNA sequence in the human genome (BSPH1) and mRNA expression in the ep...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gan077
更新日期:2009-02-01 00:00:00
abstract::We purified by fractionation on 10-40% glycerol gradients, 26S proteasomes from normal human spermatozoa. These proteasomes, which participate in the ATP-dependent degradation of ubiquitinated proteins, share a similar sedimentation coefficient to those purified from other human tissues. Fluorogenic peptide assays rev...
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::Testicular germ cell cancer is aetiologically linked to genital malformations and male infertility and is most probably caused by a disruption of embryonic programming and gonadal development during fetal life. In some cases, germ cell neoplasia is associated with a relative reduction of Y chromosomal material (e.g. 4...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gag069
更新日期:2003-09-01 00:00:00
abstract:STUDY QUESTION:Are there novel hyaladherins in human sperm? SUMMARY ANSWER:Zona pellucida-binding protein 2 (ZPBP2), containing a Link-like hyaluronic acid (HA)-binding domain, and several other proteins containing BX7B motifs, such as ADAM32 and Midkine, may be novel hyaladherins with HA-binding properties. WHAT IS ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/gax053
更新日期:2017-12-01 00:00:00
abstract::The distribution and size of a surface membrane antigen identified by a monoclonal antibody (MAC9393) have been examined in testicular and epididymal bovine sperm preparations. Western blots indicated a substantial decrease in molecular mass of the antigen during epididymal maturation from approximately 87 kDa in the ...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/4.7.673
更新日期:1998-07-01 00:00:00
abstract::Fatty acid amide hydrolase (FAAH) is involved in embryo development and implantation. Sex hormones down-modulate FAAH activity in the mouse uterus. However, the regulation of the FAAH gene in the uterus is unknown. Our results showed that FAAH mRNA is localized to uterine epithelial cells and circular myometrium durin...
journal_title:Molecular human reproduction
pub_type: 杂志文章
doi:10.1093/molehr/8.7.651
更新日期:2002-07-01 00:00:00