Please use this identifier to cite or link to this item: 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
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