Please use this identifier to cite or link to this item:
https://doi.org/10.3389/fgene.2019.00589
DC Field | Value | |
---|---|---|
dc.title | Robust preimplantation genetic testing strategy for myotonic dystrophy type 1 by bidirectional triplet-primed polymerase chain reaction combined with multi-microsatellite haplotyping following whole-genome amplification | |
dc.contributor.author | Lian, M. | |
dc.contributor.author | Lee, C.G. | |
dc.contributor.author | Chong, S.S. | |
dc.date.accessioned | 2021-11-16T07:24:51Z | |
dc.date.available | 2021-11-16T07:24:51Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Lian, M., Lee, C.G., Chong, S.S. (2019). Robust preimplantation genetic testing strategy for myotonic dystrophy type 1 by bidirectional triplet-primed polymerase chain reaction combined with multi-microsatellite haplotyping following whole-genome amplification. Frontiers in Genetics 10 (JUN) : 589. ScholarBank@NUS Repository. https://doi.org/10.3389/fgene.2019.00589 | |
dc.identifier.issn | 1664-8021 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/206394 | |
dc.description.abstract | Myotonic dystrophy type 1 (DM1) is caused by expansion of the DMPK CTG trinucleotide repeat. Disease transmission to offspring can be avoided through prenatal diagnosis or preimplantation genetic testing for monogenic disorders (PGT-M). We describe a robust strategy for DM1 PGT-M that can be applied to virtually any at-risk couple. This strategy utilizes whole-genome amplification, followed by triplet-primed PCR (TP-PCR) detection of expanded DMPK alleles, in parallel with single-tube haplotype analysis of 12 closely linked and highly polymorphic microsatellite markers. Bidirectional TP-PCR and dodecaplex marker PCR assays were optimized and validated on whole-genome amplified single lymphoblasts isolated from DM1 reference cell lines, and tested on a simulated PGT-M case comprising a parent-offspring trio and three simulated embryos. Bidirectional DMPK TP-PCR reliably detects repeat expansions even in the presence of non-CTG interruptions at either end of the expanded allele. Misdiagnoses, diagnostic ambiguity, and couple-specific assay customization are further minimized by the use of multi-marker haplotyping, preventing the loss of potentially unaffected embryos for transfer. © 2019 Frontiers Media S.A. All Rights Reserved. | |
dc.publisher | Frontiers Media S.A. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.source | Scopus OA2019 | |
dc.subject | DMPK | |
dc.subject | Haplotype analysis | |
dc.subject | Myotonic dystrophy type 1 | |
dc.subject | Preimplantation genetic testing | |
dc.subject | Triplet-primed polymerase chain reaction | |
dc.type | Article | |
dc.contributor.department | PAEDIATRICS | |
dc.contributor.department | NUS GRADUATE SCHOOL | |
dc.description.doi | 10.3389/fgene.2019.00589 | |
dc.description.sourcetitle | Frontiers in Genetics | |
dc.description.volume | 10 | |
dc.description.issue | JUN | |
dc.description.page | 589 | |
Appears in Collections: | Elements Staff Publications |
Show simple item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
10_3389_fgene_2019_00589.pdf | 6.49 MB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License