alexa Reliability of preimplantation diagnosis for single gene disorders
Cardiology

Cardiology

Arrhythmia: Open Access

Author(s): Rechitsky S, Verlinsky O, Amet T, Rechitsky M, Kouliev T

Abstract Share this page

Reliability of preimplantation genetic diagnosis (PGD) depends on controlling one of the most important limitations of single cell PCR, undetected allele drop out (ADO), which may lead to misdiagnosis. To avoid this we introduced mutation analysis simultaneously with linked polymorphic markers, pre-selecting only those embryos whose unaffected status could be confirmed by at least one linked polymorphic marker. We applied this strategy for testing 1047 oocytes, from which 237 unaffected ones were pre-selected for transfer back to patients, resulting in 34 unaffected pregnancies and birth of 23 healthy children. Embryos originating from mutant oocytes and those with insufficient marker information were followed up by multiplex PCR to confirm single cell PCR diagnosis. Of 75 (8.5%) detected ADO, only seven (under 1%) were missed in the actual PGD, demonstrating high reliability of PGD (98%) based on multiplex single cell PCR.

This article was published in Mol Cell Endocrinol. and referenced in Arrhythmia: Open Access

Relevant Expert PPTs

Relevant Speaker PPTs

  • Ishfaq A Bukhari
    Protective Effect of Diltiazem and Fenofibrate Against Ischemia-reperfusion Induced Cardiac Arrhythmias in the Isolated Rat Heart.
    PPT Version | PDF Version
  • Antonio Ferrari
    Spontaneous Ventricular Arrhythmias in Early Clinical Trials A Report from a Single and Repeated Ascending Dose Study
    PDF Version
  • Mohamed Chahine
    A novel mechanism of an SCN5A mutation causing mixed arrhythmias associated with dilated cardiomyopathy
    PDF Version
  • Saverio Gentile
    Ion channels phosphorylopathy: 3rd International Conference on Clinical & Experimental Cardiology April 15-17, 2013 A link between genomic variations and heart arrhythmia
    PDF Version
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords