Using MF-PCR to diagnose multiple defects from single cells: implications for PGD

Findlay, I., Matthews, P. L., Mulcahy, B. K. and Mitchelson, K. (2001) Using MF-PCR to diagnose multiple defects from single cells: implications for PGD. Molecular and Cellular Endocrinology, 183 Supp. 1: S5-S12. doi:10.1016/S0303-7207(01)00567-6

Author Findlay, I.
Matthews, P. L.
Mulcahy, B. K.
Mitchelson, K.
Title Using MF-PCR to diagnose multiple defects from single cells: implications for PGD
Journal name Molecular and Cellular Endocrinology   Check publisher's open access policy
ISSN 0303-7202
Publication date 2001
Sub-type Article (original research)
DOI 10.1016/S0303-7207(01)00567-6
Volume 183
Issue Supp. 1
Start page S5
End page S12
Total pages 8
Place of publication Ireland
Publisher Elsevier Science Ireland Ltd.
Collection year 2001
Language eng
Subject C1
270101 Analytical Biochemistry
780105 Biological sciences
Abstract Single cell genetic analysis is generally performed using PCR and FISH. Until recently, FISH has been the method of choice. FISH however is expensive, has significant misdiagnosis rates, can result in interpretation difficulties and is labour intensive making it unsuitable for high throughput processing. Recently fluorescent PCR reliability has increased to levels at or surpassing FISH whilst maintaining low cost. However, PCR accuracy has been a concern due to allelic dropout. Multiplex PCR can now increase accuracy by using multiple markers for each chromosome to firstly provide diagnosis if markers fail and,or secondly confirm diagnosis. We compare a variety of diagnostic methods and demonstrate for the first time a multiplex PCR system providing simultaneous diagnosis and confirmation of the major aneuploidy chromosomes (21, 18, 13) and sex as well as DNA fingerprint in single cells. We also discuss the implications of using PCR for aneuploidy screening in preimplantation genetic diagnosis. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.
Keyword Cell Biology
Endocrinology & Metabolism
In-situ Hybridization
Human Preimplantation Embryos
Quantitative Fluorescent Pcr
Rapid Prenatal Detection
Genetic Diagnosis
Chromosome Aneuploidies
Insitu Hybridization
Human Blastomeres
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Biological Sciences Publications
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Citation counts: TR Web of Science Citation Count  Cited 9 times in Thomson Reuters Web of Science Article | Citations
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Created: Tue, 14 Aug 2007, 16:55:03 EST