Lugtenberg Dorien, Veltman Joris A, van Bokhoven Hans
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Genet Med. 2007 Sep;9(9):560-5. doi: 10.1097/gim.0b013e318149e647.
Developments in genomic microarray technology have revolutionized the study of human genomic copy number variation. This has significantly affected many areas in human genetics, including the field of X-linked mental retardation (XLMR). Chromosome X-specific bacterial artificial chromosomes microarrays have been developed to specifically test this chromosome with a resolution of approximately 100 kilobases. Application of these microarrays in X-linked mental retardation studies has resulted in the identification of novel X-linked mental retardation genes, copy number variation at known X-linked mental retardation genes, and copy number variations harboring as yet unidentified X-linked mental retardation genes. Further enhancements in genomic microarray analysis will soon allow the reliable analysis of all copy number variations throughout this chromosome at the kilobase or single exon resolution. In this review, we describe the developments in this field and specifically highlight the impact of these microarray studies in the field of X-linked mental retardation.
基因组微阵列技术的发展彻底改变了人类基因组拷贝数变异的研究。这对人类遗传学的许多领域产生了重大影响，包括X连锁智力迟钝（XLMR）领域。已经开发出了X染色体特异性细菌人工染色体微阵列，以大约100千碱基的分辨率专门检测这条染色体。这些微阵列在X连锁智力迟钝研究中的应用，已导致鉴定出新的X连锁智力迟钝基因、已知X连锁智力迟钝基因处的拷贝数变异，以及含有尚未鉴定的X连锁智力迟钝基因的拷贝数变异。基因组微阵列分析的进一步改进，将很快能够以千碱基或单外显子分辨率对这条染色体上的所有拷贝数变异进行可靠分析。在这篇综述中，我们描述了该领域的发展，并特别强调了这些微阵列研究在X连锁智力迟钝领域的影响。
