Establishment and application of array comparative genomic hybirdization in preimplantation genetic diagnosis for translocation carriers
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    Abstract:

    Objective:To invertigate the clinical applying value of microarray comparative genomic hybridization (array-CGH) technology for the preimplantation genetic diagnosis (PGD) of chromosomal translocation carriers. Methods: Using the array-CGH technology to reanalyze 15 blastocysts of chromosomal translocation carriers,which was diagnosed abnormality by the fluorescence in situ hybridization (FISH) technology, then establish and clinically apply the array-CGH PGD for chromosomal balanced translocation carriers. Results: A total of 15 blastocysts diagnosed abnormality by FISH technology was amplified by whole genome amplification (WGA), and then was detected by array-CGH technology. Array-CGH could not only detect numerical and structural chromosomal abnormalities in accordance with FISH results, but also found other chromosomal abnormalities outside translocation chromosomes. The breakpoint position between translocation chromosomes detected by array-CGH technology was the same with its peripheral blood chromosomal karyotype results. Five cycles of PGD were carried out for chromosomal translocation carriers with array-CGH technology. One euploid embryo was transferred back to the woman's uterus, which resulted in successful implantation and pregnancy, whose karyotype of fetal amniotic fluid chromosomal was normal. Conclusion: WGA combined with array-CGH could comprehensively access the embryo's chromosomes of chromosomal translocation carriers, so it has good clinical applying prospects.

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江美燕,偶 健,李 红.针对染色体易位携带者的微阵列比较基因组杂交-植入前遗传学诊断技术的建立与应用[J].南京医科大学学报(自然科学版英文版),2015,(1):113-118.

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  • Received:June 08,2014
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  • Online: February 06,2015
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