Andrieux J
Laboratoire de génétique médicale, hôpital Jeanne-de-Flandre, centre hospitalier régional et universitaire, 2, avenue Oscar-Lambret, 59037 Lille cedex, France.
Pathol Biol (Paris). 2008 Sep;56(6):368-74. doi: 10.1016/j.patbio.2008.04.011. Epub 2008 Jun 2.
Cytogenetics allows detection of genomic anomalies between 10 and 15 Mb (classical cytogenetics) and between 3 and 5 Mb (high-resolution cytogenetics). These pangenomic techniques are associated with more accurate analyses, single probe interstitial FISH and subtelomeric studies. Array-CGH (aCGH) allows high resolution pangenomic analyses. BAC/PAC and oligonucleotides array-CGH have transformed the field of genetics and are useful for constitutional, hematological and solid tumors cytogenetics. Array-based comparative pangenomic hybridization resolutions vary in size (range, several kilobases to 1 Mb). With the more recent improvements, aCGH is becoming the "missing link" between cytogenetics and molecular diagnostics. Despite copy number variations (CNV) and without replacing karyotype, aCGH detects cryptic quantitative anomalies anywhere in the genome and becomes day after day more useful.
细胞遗传学能够检测出10至15兆碱基之间的基因组异常（经典细胞遗传学）以及3至5兆碱基之间的基因组异常（高分辨率细胞遗传学）。这些全基因组技术与更精确的分析、单探针间质荧光原位杂交及亚端粒研究相关。基于微阵列的比较基因组杂交（aCGH）可进行高分辨率全基因组分析。细菌人工染色体/噬菌体人工染色体（BAC/PAC）和寡核苷酸阵列比较基因组杂交已经改变了遗传学领域，对染色体组、血液学及实体瘤细胞遗传学研究很有用。基于阵列的比较全基因组杂交分辨率在大小上有所不同（范围从几千碱基到1兆碱基）。随着最近的改进，aCGH正成为细胞遗传学与分子诊断之间的“缺失环节”。尽管存在拷贝数变异（CNV）且不能替代核型分析，但aCGH能检测基因组中任何位置的隐匿性定量异常，且日益有用。
