文章摘要
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,2015,(1):113~118
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
Establishment and application of array comparative genomic hybirdization in preimplantation genetic diagnosis for translocation carriers
投稿时间:2014-06-08  
DOI:10.7655/NYDXBNS20150130
中文关键词: 染色体易位  植入前遗传学诊断  荧光原位杂交技术  微阵列比较基因组杂交技术
英文关键词: chromosomal translocation  preimplantation genetic diagnosis (PGD)  fluorescence in situ hybridization(FISH)  microarray comparative genomic hybridization(array-CGH)
基金项目:江苏省妇幼保健科研项目(F210317);苏州市科技发展计划(SYS201359);江苏省妇幼保健科研项目(F201443)
作者单位
江美燕 南京医科大学附属苏州医院生殖与遗传中心,江苏 苏州 215002
杭州市妇产科医院妇产科,浙江 杭州 310008 
偶 健 南京医科大学附属苏州医院生殖与遗传中心,江苏 苏州 215002 
李 红 南京医科大学附属苏州医院生殖与遗传中心,江苏 苏州 215002 
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中文摘要:
      目的:应用微阵列比较基因组杂交技术(array-CGH)对染色体平衡易位携带者进行胚胎植入前遗传学诊断,探讨其临床应用价值。方法:应用荧光原位杂交技术(FISH)对染色体易位携带者D3胚胎进行检测,对结果为异常且发育到囊胚的15枚胚胎应用array-CGH再次检测,建立array-CGH技术平台,再将array-CGH技术应用于染色体平衡易位携带者胚胎植入前遗传学诊断。结果:对经过FISH检测为异常且发育到囊胚的15枚胚胎进行全基因组扩增(WGA)后采用array-CGH技术进行检测,发现array-CGH技术不仅能够检测到FISH结果对应的数目异常和结构异常,还可以发现除FISH诊断的染色体异常外其他染色体异常。其对于相互易位病例不平衡易位断裂点检测的结果与对易位携带者的核型分析结果一致。应用array-CGH技术对5对染色体易位携带者夫妇的31枚胚胎进行胚胎植入前遗传学诊断,30枚获得检测结果,1对夫妇移植1枚整倍体胚胎后获得妊娠,羊水染色体分析提示胎儿染色体核型正常。结论:通过全基因组扩增以及array-CGH技术,对染色体平衡易位携带者胚胎进行植入前遗传学诊断,能够全面评估胚胎染色体的情况,具有良好的临床应用前景。
英文摘要:
      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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