Accuracy of Preimplantation Diagnosis of Single-Gene Disorders by Polar Body Analysis of Oocytes |
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Authors: | S Rechitsky C Strom O Verlinsky T Amet V Ivakhnenko V Kukharenko A Kuliev Y Verlinsky |
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Institution: | (1) Reproductive Genetics Institute, 836 West Wellington Avenue, Chicago, Illinois, 60657 |
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Abstract: | Purpose:
A number of pitfalls in single-cell DNA analysis, including undetected DNA contamination, undetected allele drop out, and preferential amplification, may lead to misdiagnosis in preimplantation genetic diagnosis of single-gene disorders.
Methods:
Preimplantation genetic diagnosis was performed by sequential first and second polar body analysis of oocytes in 26 couples at risk for having children with various single-gene disorders. Mutant genes were amplified simultaneously with linked polymorphic markers, and only embryos resulting from the mutation-free oocytes predicted by polar body analysis with confirmation by polymorphic marker testing were transferred back to patients.
Results:
Overall 529 oocytes from 48 clinical cycles (26 patients) were tested, resulting in the transfer of 106 embryos in 44 clinical cycles. As many as 46 (9.6%) instances of allele dropout were observed, the majority (96%) of which were detected. Seventeen unaffected pregnancies were established, of which nine resulted in the birth of an unaffected child, and the rest are ongoing.
Conclusions:
A high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction. |
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Keywords: | preimplantation diagnosis single-gene disorders first and second polar bodies allele dropout multiplex PCR |
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