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染色体微阵列分析技术在产前诊断中的应用专家共识
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Obstetrics and Gynecology
- Issue:
- 8
- DOI:
- 10.3760/cma.j.issn.0529-567x.2014.08.002
- Key Word:
- No keyword available
Abstract： 目前,G显带染色体核型分析技术仍然是细胞遗传学产前诊断的“金标准”,但该技术具有细胞培养耗时长、分辨率低以及耗费人力的局限性.包括荧光原位杂交(fluorescence in situ hybridization,FISH)技术在内的快速产前诊断技术的引入虽然具有快速及特异性高的优点,但还不能做到对染色体组的全局分析.染色体微阵列分析(chromosomal microarray analysis,CMA)技术又被称为“分子核型分析”,能够在全基因组水平进行扫描,可检测染色体不平衡的拷贝数变异(copy number variant,CNV),尤其是对于检测染色体组微小缺失、重复等不平衡性重排具有突出优势.根据芯片设计与检测原理的不同,CMA技术可分为两大类:基于微阵列的比较基因组杂交(array-based comparative genomic hybridization,aCGH)技术和单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)技术.前者需要将待测样本DNA与正常对照样本DNA分别标记、进行竞争性杂交后获得定量的拷贝数检测结果,而后者则只需将待测样本DNA与一整套正常基因组对照资料进行对比即可获得诊断结果.通过aCGH技术能够很好地检出CNV,而SNP array除了能够检出CNV外,还能够检测出大多数的单亲二倍体(uniparental disomy,UPD)和三倍体,并且可以检测到一定水平的嵌合体.而设计涵盖CNV+SNP检测探针的芯片,可同时具有CNV和SNP芯片的特点[1].
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