Please use this identifier to cite or link to this item:
https://doi.org/10.1017/erm.2017.10
DC Field | Value | |
---|---|---|
dc.title | FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome | |
dc.contributor.author | Rajan-Babu, Indhu-Shree | |
dc.contributor.author | Lian, Mulias | |
dc.contributor.author | Cheah, Felicia SH | |
dc.contributor.author | Chen, Min | |
dc.contributor.author | Tan, Arnold SC | |
dc.contributor.author | Prasath, Ethiraj B | |
dc.contributor.author | Loh, Seong Feei | |
dc.contributor.author | Chong, Samuel S | |
dc.date.accessioned | 2022-06-09T06:48:48Z | |
dc.date.available | 2022-06-09T06:48:48Z | |
dc.date.issued | 2017-07-19 | |
dc.identifier.citation | Rajan-Babu, Indhu-Shree, Lian, Mulias, Cheah, Felicia SH, Chen, Min, Tan, Arnold SC, Prasath, Ethiraj B, Loh, Seong Feei, Chong, Samuel S (2017-07-19). FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome. EXPERT REVIEWS IN MOLECULAR MEDICINE 19. ScholarBank@NUS Repository. https://doi.org/10.1017/erm.2017.10 | |
dc.identifier.issn | 14623994 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/226868 | |
dc.description.abstract | Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all ‘embryos’. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided. | |
dc.language.iso | en | |
dc.publisher | CAMBRIDGE UNIV PRESS | |
dc.source | Elements | |
dc.subject | Science & Technology | |
dc.subject | Life Sciences & Biomedicine | |
dc.subject | Biochemistry & Molecular Biology | |
dc.subject | Medicine, Research & Experimental | |
dc.subject | Research & Experimental Medicine | |
dc.subject | MULTIPLE DISPLACEMENT AMPLIFICATION | |
dc.subject | FULL-MUTATION | |
dc.subject | PRIMED PCR | |
dc.subject | PRACTICE GUIDELINES | |
dc.subject | MYOTONIC-DYSTROPHY | |
dc.subject | EXPANDED ALLELES | |
dc.subject | PREMUTATION | |
dc.subject | DNA | |
dc.subject | CARRIERS | |
dc.subject | DISEASE | |
dc.type | Review | |
dc.date.updated | 2022-06-07T06:54:35Z | |
dc.contributor.department | DEPT OF PAEDIATRICS | |
dc.contributor.department | DUKE-NUS MEDICAL SCHOOL | |
dc.description.doi | 10.1017/erm.2017.10 | |
dc.description.sourcetitle | EXPERT REVIEWS IN MOLECULAR MEDICINE | |
dc.description.volume | 19 | |
dc.published.state | Published | |
Appears in Collections: | Staff Publications Elements |
Show simple item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic.pdf | 1.91 MB | Adobe PDF | OPEN | Published | View/Download |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.