Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes

被引:53
|
作者
Rechitsky, S [1 ]
Strom, C [1 ]
Verlinsky, O [1 ]
Amet, T [1 ]
Ivakhnenko, V [1 ]
Kukharenko, V [1 ]
Kuliev, A [1 ]
Verlinsky, Y [1 ]
机构
[1] Illinois Masonic Med Ctr, Inst Reprod Genet, Chicago, IL 60657 USA
关键词
preimplantation diagnosis; single-gene disorders; first and second polar bodies; allele dropout; multiplex PCR;
D O I
10.1023/A:1020312823155
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 generic 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.
引用
收藏
页码:192 / 198
页数:7
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