Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
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DOI：
10.1086/507471
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发表时间：
2006-09-01
影响因子：
9.8
通讯作者：
Marra, Marco A.
中科院分区：
文献类型：
--
作者：
Friedman, J. M.;Baross, Agnes;Marra, Marco A.
在所有受影响的人中，有三分之一到一半的人精神发育迟缓的原因尚不清楚。显微镜下可检测到的染色体异常是最常见的原因，但另一个重要原因是传统细胞遗传学分析无法看到的太小的染色体片段的获得或丢失。基于阵列的方法提供了一种对整个基因组进行高分辨率调查的实用方法，以寻找亚微观拷贝数变体。应用Affymetrix基因芯片人类图谱100K阵列进行全基因组抽样分析，对100例标准染色体分析结果正常的特发性精神发育迟滞儿童进行研究。我们在8例中发现了小至178kb的新缺失，在2例中发现了小至1.1Mb的新重复，在另一例中发现了意外的马赛克9三体。这项技术可以在智力低下的人中检测到至少两倍于传统细胞遗传学分析的潜在致病从头拷贝数变异。
The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically detectable chromosomal abnormalities are the most frequently recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis has been found to be another important cause. Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy-number variants. We studied 100 children with idiopathic mental retardation and normal results of standard chromosomal analysis, by use of whole-genome sampling analysis with Affymetrix GeneChip Human Mapping 100K arrays. We found de novo deletions as small as 178 kb in eight cases, de novo duplications as small as 1.1 Mb in two cases, and unsuspected mosaic trisomy 9 in another case. This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation.