Bayrakli Fatih, Bilguvar Kaya, Mason Christopher E, DiLuna Michael L, Bayri Yasar, Gungor Levent, Terzi Murat, Mane Shrikant M, Lifton Richard P, State Matthew W, Gunel Murat
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Hum Mutat. 2007 Dec;28(12):1236-40. doi: 10.1002/humu.20592.
SNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism.
单核苷酸多态性（SNP）和比较基因组杂交阵列（aCGH）是用于识别基因组重排、缺失和重复的强大技术。我们推测，当前基于阵列的拷贝数变异（CNV）检测可以补充参数连锁分析，并能在患有遗传性疾病的家族中快速识别功能突变。在此，我们通过在一个患有常染色体隐性帕金森症的家族中快速识别出PARK2基因内一个致病的微缺失，证明了该技术的实用性。
