지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 69 - 76 (8page)
이용수
초록· 키워드
오류제보하기
Neurofibroma type 1 (NFI) is an autosomal dominant genetic disease associated with cancer and cognitive dysfunction. The 50% de novo mutation rate and numerous mutation types of the NF1 gene pose challenges to preimplantation genetic testing (PGT) for NFI. In 2020, a couple was subjected to next-generation sequencing (NGS)-based PGT at our center. Both husband and wife carried de novo NF1 mutations. Biopsied trophectoderm samples underwent whole-genome amplification using multiple displacement amplification. NGS was conducted to detect NF1 mutations as well as 105 closely linked single-nucleotide polymorphisms (SNPs) flanking NF1. Since no affected family member was available, the affected embryos identified by NF1-targeted sequencing were assigned as probands, based on which a haplotype analysis was constructed with informative SNP sites. Sanger sequencing was administrated for verification. Aneuploidy screening through NGS was performed in the same PGT cycle. Finally, among the nine biopsied blastocysts, two unaffected and euploid blastocysts were obtained in the couple, and one of the blastocysts was transferred in a frozen–thawed embryo transfer (FET) cycle. The outcome of FET is under observation. This study is the first to apply NGS-based PGT for NFI. In cases of sporadic NFI cases without affected family members, NGS-SNP can perform haploid analysis in an accurate manner by assigning the affected embryos as probands.
목차
등록된 정보가 없습니다.
참고문헌 (0)
참고문헌 신청함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Preimplantation Genetic Testing of Achondroplasia by Two Haplotyping Systems: Short Tandem Repeats and Single Nucleotide Polymorphism
BioChip Journal
2019 .01
-
Unlocking the Power of Next-Generation Sequencing
한국생물공학회 학술대회
2021 .04
-
The shaping of cancer genomes with the regional impact of mutation processes
Experimental and Molecular Medicine
2022 .07
-
Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer
BMB Reports
2021 .01
-
동·서해안지역 해수에서 과불화 화합물의 모니터링
한국지반환경공학회 논문집
2017 .11
-
Effects of the order of mutations in network dynamics
한국정보과학회 학술발표논문집
2017 .06
-
Recent advances in CRISPR-based functional genomics for the study of disease-associated genetic variants
Experimental and Molecular Medicine
2024 .04
-
NF₃ 가수분해반응에서의 불화된 금속산화물의 활성평가
한국에너지기후변화학회 학술대회
2016 .11
-
semiconductor sequencing 방식을 사용하여 SNP 기반으로 fetal fraction을 측정하기 위한 연구
한국지능정보시스템학회 학술대회논문집
2017 .08
-
액터 모델 기반 5G 네트워크 데이터 분석 기능 시뮬레이터 구현
한국통신학회논문지
2025 .02
-
Hyaluronic Acid Decorated Nanofiber Fragment Scaffold for Corneal Regeneration
한국고분자학회 학술대회 연구논문 초록집
2021 .10
-
Cobalt Nitride Supported on Nickel Foam as Bifunctional Catalyst Electrodes for Urea Electrolysis-Assisted Hydrogen Generation
NANO
2019 .01
-
Understanding Confounding Effects of Blood Handling Strategies on RNA Quality and Transcriptomic Alteration Using RNA Sequencing
BioChip Journal
2021 .01
-
Factors Affecting in vitro Production of Goat Embryos
한국생물공학회 학술대회
2020 .10
-
NFS 게이트웨이를 이용한 하둡 분산 파일 시스템의 성능 연구
한국정보과학회 학술발표논문집
2017 .06
-
Data Science with Genetic Information for Precision Medicine (COVID-19 Pandemic) - Next Generation Sequencing
한국생물공학회 학술대회
2020 .10
-
Development of Highly Informative Single Nucleotide Polymorphism (SNP) Assay for Genotyping in Hexaploid Wheat (Triticum aestivum L.)
한국생물공학회 학술대회
2021 .10
-
유사동적실험에 의한 NF 내진보강법의 내진성능 검증
한국콘크리트학회 학술대회 논문집
2019 .10
이 논문의 저자 정보
최근 본 자료
댓글(0)
0