智力障碍qBiomarker拷贝数PCR芯片 Intellectual Disability qBiomarker Copy Number PCR Arrays

服务名称 ： 智力障碍qBiomarker拷贝数PCR芯片

提供商 ：SAbiosciences

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Intellectual Disability qBiomarker Copy Number PCR Arrays

智力障碍qBiomarker拷贝数PCR芯片

Product	Species	Technology	Cat. No.
Intellectual Disability qBiomarker Copy Number PCR Arrays	Human	Copy Number	VAHS-0503Z

The Human Intellectual Disability qBiomarker Copy Number PCR Array profiles the copy number of 23 genes reported to undergo frequent genomic alterations in humans with intellectual disability. Many de novo genomic rearrangements, including copy number variations (CNV), have been identified in patients with intellectual disability.
The genes on the array encode ion channels, cytoskeletal components, enzymes and transcription factors that regulate processes such as the cell cycle, cell adhesion, neurogenesis and differentiation, brain and central nervous system development, synaptic transmission, and nerve potential. Genes were chosen from the most frequently amplified or deleted genes relevant to impaired memory or cognitive function based on the primary literature and public databases. This array may serve as a useful tool to help classify samples by genotype and help verify phenotypic biomarkers. The array analyzes each gene in each sample in quadruplicate and includes a stable multi-copy reference assay for accurate copy number determination via appropriate DNA input normalization. The simplicity of the product format and operating procedure allow routine and reliable copy number profiling in any research laboratory with access to a real-time PCR instrument.
The qBiomarker Copy Number PCR Arrays are intended for molecular biology applications. This product is not intended for the diagnosis, prevention, or treatment of a disease.
96-well Plate, 384-well (4 × 96) Plate, and 100-well Disc formats are available

智力障碍qBiomarker拷贝数PCR芯片用于研究已报道的在人类智力障碍中经历频繁突变23基因的拷贝数。许多de novo因组重组,包括拷贝数变异(CNV) 已经在智力障碍中获得鉴定。该芯片上的基因编码离子通道、细胞骨架成分、酶以及调节细胞周期,细胞粘附,神经发生和分化,大脑和中枢神经系统的发育,突触传导,神经的潜力等过程的转录因。这些基因基于文献和公共数据库，选择与基因记忆或认知功能受损相关且发生最频繁扩增或缺失的基因。这个芯片可作为帮助分类样本的基因型和验证表型生物标记的有效工具。这个芯片可以使每个基因在每个样本中有四个重复，同时包含一个稳定的多拷贝参考实验，通过适当的DNA插入标准化精确检测拷贝数。简单的产品模式和操作程序让任何一个具备实时定量PCR仪的实验室都可进行常规可靠的拷贝数检测。
qBiomarker拷贝数PCR芯片用于分子生物学应用。本产品不用于疾病的诊断、预防和治疗。
提供96孔板，384 -(4×96)板，和100 孔。


3p- Syndrome: CNTN4.
Angelman Syndrome: MECP2, NIPA2.
Cornelia de Lange Syndrome 2: SMC1A.
Epileptic Encephalopathy, Early Infantile, 11 & Seizures, Benign Familial Infantile, 3: SCN2A, SCN3A.
Epileptic Encephalopathy, Early Infantile, 9: PCDH19.
Fragile X Syndrome: FMR1.
KBG Syndrome: ANKRD11, ZNF778.
Lissencephaly: PAFAH1B1, YWHAE.
Pitt-Hopkins-Like Syndrome 2: NRXN1.
Prader-Willi Syndrome: CYFIP1, GOLGA8E, NIPA2, WHAMMP3.
Rett Syndrome: FOXG1, MECP2.
Smith-Magenis Syndrome: RAI1.
X-Linked 17/31, Microduplication & X-Linked Syndromic: HSD17B10, HUWE1, MECP2, RIBC1.
X-Linked 58: TSPAN7.
Others: APBA2