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Series GSE21732 Query DataSets for GSE21732
Status Public on May 18, 2011
Title Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary Objective: To prove the ability to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
Design: Case report.
Setting: Academic center for reproductive medicine.
Patient: A female with a balanced translocation causing Alagille Syndrome seeking preimplantation genetic diagnosis (PGD).
Interventions: Blastocyst biopsy for PGD.
Main outcome measures: Consistency of 3 methods of embryo genetic analysis (real-time PCR, SNP microarray, and FISH) and normalcy in the newborn derived from PGD.
Results: PGD was applied to 48 embryos. Real-time PCR, SNP microarray, and FISH demonstrated 100% consistency, although FISH failed to detect aneuploidies observed by comprehensive SNP microarray based analyses. Two blastocysts were identified to be normal for all 3 factors using SNP microarray technology alone. The two normal embryos were transferred back to the patient resulting in the delivery of a healthy baby boy with a normal karyotype.
Conclusions: This is the first report of validation and successful clinical application of microarray based PGD to distinguish between balanced and normal chromosomes in embryos from a translocation carrier.
Overall design Affymetrix SNP arrays were processed according to the manufacturer's directions on DNA extracted from 17 blastocysts on biopsied trophectoderm samples and 31 arrested whole embryos.
Afflymetrix SNP array analysis was successfully completed on 17 trophectoderm, 30 whole embryo and 3 gDNA samples.
Contributor(s) Treff NR, Northrop LE, Bergh PA, Scott RT Jr, Schillings WJ, Levy B, Xin T
Citation(s) 21575938
Submission date May 07, 2010
Last update date May 17, 2017
Contact name Nathan Treff
Organization name RMA of New Jersey
Street address 111 Madison Ave
City Morristown
ZIP/Postal code 07960
Country USA
Platforms (1)
GPL3718 [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Samples (51)
GSM542145 Embryo 1, trophectoderm
GSM542146 Embryo 2, trophectoderm
GSM542147 Embryo 3, trophectoderm
BioProject PRJNA127349

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE21732_RAW.tar 1.8 Gb (http)(custom) TAR (of CEL, CHP, TXT)
Processed data included within Sample table
Processed data provided as supplementary file

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