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https://doi.org/10.1038/gim.2015.185
Title: | Identification of microsatellite markers < 1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome | Authors: | Chen, Min Zhao, Mingjue Lee, Caroline G Chong, Samuel S |
Keywords: | Science & Technology Life Sciences & Biomedicine Genetics & Heredity FMR1 fragile X syndrome microsatellite markers preimplantation genetic diagnosis MULTIPLE DISPLACEMENT AMPLIFICATION TREMOR/ATAXIA SYNDROME EXPANDED ALLELES PRIMED PCR PREMUTATION PGD HETEROZYGOSITY TRANSMISSION DISORDERS MUTATION |
Issue Date: | 1-Sep-2016 | Publisher: | NATURE PUBLISHING GROUP | Citation: | Chen, Min, Zhao, Mingjue, Lee, Caroline G, Chong, Samuel S (2016-09-01). Identification of microsatellite markers < 1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome. GENETICS IN MEDICINE 18 (9) : 869-875. ScholarBank@NUS Repository. https://doi.org/10.1038/gim.2015.185 | Abstract: | Purpose:To develop a single-tube polymerase chain reaction (PCR) panel of highly polymorphic markers for preimplantation genetic diagnosis (PGD) of fragile X syndrome (FXS).Methods:An in silico search was performed to identify all markers within 1 Mb flanking the FMR1 gene. Selected markers were optimized into a single-tube PCR panel and their polymorphism indices were determined from 272 female samples from three populations. The single-tube assay was also validated on 30 single cells to evaluate its applicability to FXS PGD.Results:Thirteen markers with potentially high polymorphism information content (PIC) and heterozygosity values were selected and optimized into a single-tube PCR panel together with AMELX/Y for gender determination. Analysis of 272 female samples confirmed the high polymorphism (PIC > 0.5) of most markers, with expected and observed heterozygosities ranging from 0.31 to 0.87. More than 99% of individuals were heterozygous for at least three markers, with 95.8% of individuals heterozygous for at least two markers on either side of the FMR1 CGG repeat.Conclusion:The tetradecaplex marker assay can be performed directly on single cells or after whole-genome amplification, thus supporting its use in FXS PGD either as a standalone linkage-based assay or as a complement to FMR1 mutation detection. | Source Title: | GENETICS IN MEDICINE | URI: | https://scholarbank.nus.edu.sg/handle/10635/226886 | ISSN: | 1098-3600 1530-0366 |
DOI: | 10.1038/gim.2015.185 |
Appears in Collections: | Staff Publications Elements |
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MChen FMR1 14-STRplex GenetMed 18.869-75 16.pdf | Published version | 2.81 MB | Adobe PDF | CLOSED | None |
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