دورية أكاديمية
P-696 Identification of novel candidate genes associated with meitotic aneuploidy in human embryos by whole-exome sequencing (WES)
| العنوان: | P-696 Identification of novel candidate genes associated with meitotic aneuploidy in human embryos by whole-exome sequencing (WES) |
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| المؤلفون: | Lledo, B, Marco, A, Morales, R, Ortiz, J A, García-Hernández, E, Lozano, F, Cascales, A, Guerrero, J, Bernabeu, A, Bernabeu, R |
| المصدر: | Human Reproduction ; volume 38, issue Supplement_1 ; ISSN 0268-1161 1460-2350 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine |
| الوصف: | Study question Can certain genetic variants in women cause a genetic predisposition to aneuploidy? Summary answer Our results suggest that the maternal variants identified in genes regulating meiotic processes could be useful genetic biomarkers for predicting a predisposition to embryonic aneuploidies. What is known already Errors in chromosome segregation during meiosis as chromosome synapsis, crossing-over and spindle building, occur frequently in human oocytes and cause aneuploidy in embryos. These errors increase dramatically in the oocytes of older women. However, the rate of producing aneuploidy oocytes varies among IVF patients for a given age. Recent publications have identified genetic variants that are crucial for producing healthy oocytes in female IVF patients. The association between maternal genetic variants and embryonic aneuploidy risk suggests the potential of using genomic data to predict embryonic aneuploidy risk. Our aim was to identify novel variants and candidate genes for embryonic aneuploidy. Study design, size, duration A prospective observational cohort study was done including 127 trophoectoderm biopsies from 29 couples who performed whole-exome sequencing (WES) and PGT-A between November 2019 and March 2022. Women were 35 years old or younger and normal karyotype for men and women. Patients were divided in two groups according to the embryo aneuploidy rate expected by their maternal age: ≤ 50% of aneuploid blastocysts as control group(n = 14), and ≥ 50% of aneuploid blastocysts as study group(n = 15). Participants/materials, setting, methods WES was performed using Trusight One Expanded Sequencing Panel (Illumina®). The following criteria were used for filtering and annotation of candidate variants: (1) minor allele frequency (MAF) <0.05 in the gnomAD and 1000 genomes, (2) variants in genes previously associated with chromosome segregation, chromatin cohesion, meiosis and cell division processes, (3) exonic/splicing boundaries variants, (4) variants having potentially ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/humrep/dead093.333 |
| الإتاحة: | https://doi.org/10.1093/humrep/dead093.333Test https://academic.oup.com/humrep/article-pdf/38/Supplement_1/dead093.333/50787308/dead093.333.pdfTest |
| حقوق: | https://academic.oup.com/pages/standard-publication-reuse-rightsTest |
| رقم الانضمام: | edsbas.4942488D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/humrep/dead093.333 |
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