Stankiewicz Pawel, Beaudet Arthur L
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Curr Opin Genet Dev. 2007 Jun;17(3):182-92. doi: 10.1016/j.gde.2007.04.009. Epub 2007 Apr 30.
The clinical implementation of array comparative genomic hybridization has revolutionized the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple studies of hundreds of patients with idiopathic mental retardation, and normal karyotype and/or subtelomeric testing using genome-wide microarray platforms with approximately 2000 to >30,000 (tiling-path) interrogating BAC/PAC probes have detected chromosome abnormalities in up to 17% of cases. Surprisingly, some of the pathogenic changes are mosaic and not detectable in conventional karyotyping. Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories.
阵列比较基因组杂交技术的临床应用彻底改变了对患有综合征性或非综合征性智力障碍患者的诊断。多项针对数百名特发性智力障碍患者的研究，这些患者具有正常核型和/或使用具有约2000至>30,000个（平铺路径）BAC/PAC探针的全基因组微阵列平台进行亚端粒检测，在高达17%的病例中检测到染色体异常。令人惊讶的是，一些致病变化是嵌合的，在传统核型分析中无法检测到。具有超过30万个合成寡核苷酸探针的商业可用全基因组微阵列具有更高的分辨率和灵敏度，可能会在临床实验室中取代BAC/PAC阵列。
