questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Composants de génome
Séquences répétées dispersées
Éléments transposables d'ADN
Éléments transposables d'ADN : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Éléments transposables
Séquençage de l'ADN
Maladies génétiques
Éléments transposables
Analyse sanguine
Éléments transposables
Marqueurs génétiques
Éléments transposables
Symptômes
5
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Troubles neurologiques
Développement embryonnaire
Malformations congénitales
Cancers
Mutations génétiques
Hérédité
Éléments transposables
Immunité
Éléments transposables
Prévention
5
Dépistage génétique
Mutations
Conseil génétique
Tests prénataux
Éducation génétique
Risques génétiques
Habitudes de vie
Éléments transposables
Mode de vie
Santé génétique
Traitements
5
Thérapie génique
Médicaments
Inhibiteurs
Éléments transposables
Médecine personnalisée
Profil génétique
Essais cliniques
Éléments transposables
Médicaments anticancéreux
Immunomodulateurs
Complications
5
Cancers
Maladies auto-immunes
Mutations
Éléments transposables
Résistance aux médicaments
Cancers
Fertilité
Anomalies génétiques
Gestion des complications
Éléments transposables
Facteurs de risque
5
Antécédents familiaux
Expositions environnementales
Infections virales
Éléments transposables
Mode de vie
Risque de maladies
Prédispositions génétiques
Éléments transposables
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"name": "Quels tests génétiques sont utilisés ?",
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"position": 8,
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"position": 10,
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}
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{
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"name": "Peut-on prévenir les effets des transposons ?",
"position": 11,
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"text": "La prévention passe par le dépistage génétique et la surveillance des mutations."
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"name": "Y a-t-il des mesures préventives spécifiques ?",
"position": 12,
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"@type": "Question",
"name": "Les habitudes de vie influencent-elles les transposons ?",
"position": 14,
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"position": 15,
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}
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"name": "Quels traitements ciblent les éléments transposables ?",
"position": 16,
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"name": "Peut-on inhiber les transposons ?",
"position": 17,
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}
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"name": "Les traitements sont-ils personnalisés ?",
"position": 18,
"acceptedAnswer": {
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"text": "Oui, les traitements peuvent être adaptés en fonction du profil génétique du patient."
}
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{
"@type": "Question",
"name": "Y a-t-il des essais cliniques en cours ?",
"position": 19,
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"text": "Oui, plusieurs essais cliniques étudient des traitements ciblant les transposons."
}
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"name": "Quels médicaments sont utilisés pour les maladies liées ?",
"position": 20,
"acceptedAnswer": {
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"name": "Quelles complications peuvent survenir ?",
"position": 21,
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"text": "Les complications incluent des cancers, des maladies auto-immunes et des troubles neurologiques."
}
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"name": "Les transposons causent-ils des mutations ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, leur insertion peut provoquer des mutations génétiques, augmentant le risque de maladies."
}
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{
"@type": "Question",
"name": "Y a-t-il des risques de résistance aux traitements ?",
"position": 23,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Comment les transposons affectent-ils la reproduction ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent causer des anomalies génétiques, affectant la fertilité et le développement embryonnaire."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque associés ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des expositions environnementales et des mutations."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
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"text": "Oui, le risque de maladies liées aux transposons augmente avec l'âge."
}
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{
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"name": "Les infections virales sont-elles un facteur ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales peuvent activer des éléments transposables, augmentant le risque."
}
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"name": "Le mode de vie joue-t-il un rôle ?",
"position": 29,
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"name": "Y a-t-il des prédispositions génétiques ?",
"position": 30,
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 23/02/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA. cf458@cornell.edu.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.
The Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. twang@wustl.edu.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Laboratório de Melhoramento de Plantas, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz (UESC), Ilhéus 45662-900, BA, Brazil.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Laboratório de Melhoramento de Plantas, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz (UESC), Ilhéus 45662-900, BA, Brazil.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Laboratório de Melhoramento de Plantas, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz (UESC), Ilhéus 45662-900, BA, Brazil.
CIRAD, UMR AGAP, F-34398 Montpellier, France.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Laboratório de Melhoramento de Plantas, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz (UESC), Ilhéus 45662-900, BA, Brazil.
Publications dans "Éléments transposables d'ADN" :
3 publications dans cette catégorie
Affiliations :
Laboratório de Melhoramento de Plantas, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz (UESC), Ilhéus 45662-900, BA, Brazil.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Blizard Institute, Barts and The London School of Medicine and Dentistry, QMUL, London, UK.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Blizard Institute, Barts and The London School of Medicine and Dentistry, QMUL, London, UK.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Blizard Institute, Barts and The London School of Medicine and Dentistry, QMUL, London, UK. m.branco@qmul.ac.uk.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Centre for Ecology and Conservation, University of Exeter, Cornwall Campus, Cornwall TR10 9FE, UK. Electronic address: alex.hayward@exeter.ac.uk.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Université Paris-Saclay, CNRS, IRD, UMR Evolution, Génomes, Comportement et Ecologie, Gif-sur-Yvette 91198, France. Electronic address: clement.gilbert1@universite-paris-saclay.fr.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Department of Plant and Microbial Biology, University of Minnesota, St. Paul MN, United States of America.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Department of Plant Sciences, University of California Davis, Davis CA, United States of America.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Department of Plant and Microbial Biology, University of Minnesota, St. Paul MN, United States of America.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Department of Biological Sciences North Dakota State University Fargo ND USA.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Bashkir State Medical University, Ufa, Russia.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
The George Washington University Cancer Center (GWCC), Washington, DC.
Department of Microbiology, Immunology & Tropical Medicine, The George Washington University, Washington, DC.
George Washington University School of Medicine and Health Sciences, Washington, DC.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
Department of Pathology, Dana-Farber Cancer Institute/Harvard Medical School, Boston, Massachusetts.
Publications dans "Éléments transposables d'ADN" :
2 publications dans cette catégorie
Affiliations :
The George Washington University Cancer Center (GWCC), Washington, DC.
Department of Microbiology, Immunology & Tropical Medicine, The George Washington University, Washington, DC.
The Institute for Biomedical Sciences at the George Washington University, Washington, DC.
Publications dans "Éléments transposables d'ADN" :
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microdu...
This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isola...
Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detec...
Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromos...
Differential methylation (DM) is actively recruited in different types of fundamental and translational studies. Currently, microarray- and NGS-based approaches for methylation analysis are the most w...
To investigate the efficacy and outcomes of chromosomal microarray (CMA) in the cytogenomic evaluation of products of conception (POC)....
Over a 42-month period, 323 POC samples were tested by CMA. Results were assessed using variables including phenotype, gestational age, results from orthogonal testing, and follow-up parental analysis...
CMA identified cytogenetic abnormalities in 47.4% of first trimester losses and 10.9% of second and third trimester losses. Chromosomal microarray results specifically from 5 to 7-week losses showed s...
Our findings of specific types of genetic abnormalities and the respective frequencies by gestational age closely align with those of published karyotype studies, supporting the use of routine CMA tes...
Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with ...
Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants ...
This study aimed to evaluate the accuracy, efficacy, and incremental yield of whole genome sequencing in comparison with chromosomal microarray analysis for routine prenatal diagnosis....
In this prospective study, a total of 185 unselected singleton fetuses with ultrasound-detected structural anomalies were enrolled. In parallel, each sample was subjected to whole genome sequencing an...
Overall, genetic diagnoses using whole genome sequencing were obtained for 28 (15.1%) cases. Whole genome sequencing not only detected all these aneuploidies and copy number variations in the 20 (10.8...
Compared with chromosomal microarray analysis, whole genome sequencing increased the additional detection rate by 5.9% (11/185). Using whole genome sequencing, we detected not only aneuploidies and co...
The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridi...
From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The pregnant women underwent kar...
In total, 3710 G-banding karyotype results and CMA results from invasive prenatal diagnosis were collected. Of these, 201 (5.41%) fetuses with an abnormal karyotype were observed. The CMA analysis sho...
Conventional G-banding karyotyping and CMA have their own advantages and limitations. A combination of karyotype analysis and CMA can increase the detection rate of chromosome abnormalities and make u...
Chromosomal microarray analysis (CMA) is considered a first-tier test for patients with developmental disabilities and congenital anomalies and is also routinely applied in prenatal diagnosis. The cur...
Autism spectrum disorder (ASD) is characterized by high heritability estimates and recurrence rates; its genetic underpinnings are very heterogeneous and include variable combinations of common and ra...
The aim of this study was to evaluate both diagnostic yield and clinical impact of aCGH in 329 ASD patients of Italian descent....
Pathogenic/likely pathogenic CNVs were identified in 50/329 (15.2%) patients, whereas 89/329 (27.1%) carry variants of uncertain significance. The 10 most enriched gene sets identified by Gene Ontolog...
This study confirms the satisfactory diagnostic yield of aCGH, underscoring its potential for better, more in-depth care of children with autism when genetic results are analyzed also with a focus on ...
Azoospermia consists of a significant proportion of infertility aetiology in males. Although known genetic abnormalities may explain roughly the third of infertility cases, the exact aetiology is stil...
This study was performed to assess the optimal resolution for prenatal testing by array comparative genomic hybridization (aCGH), aiming to balance between maximum diagnostic yield and minimal detecti...
This was a prospective study using data of 2,336 fetuses that underwent invasive prenatal diagnosis, and the samples were analyzed by aCGH. In total, six different aCGH platforms were studied; four di...
The diagnostic yield of copy number variants increased with increasing level of analysis. The detection rates of clinically significant chromosomal abnormalities were almost the same across our target...
It appears that the targeted array platform with 0.5 Mb backbone resolution and 0.05 Mb on targeted gene-rich regions is optimal for routine chromosomal microarray analysis use in prenatal diagnosis. ...