人自闭症qBiomarker拷贝数PCR芯片分析已报道的在孤独症谱系障碍中发生频繁突变的95个基因的拷贝数。自闭症以社会交往和交流能力受损以及行为受限和重复为特征，三岁前会出现神经发育紊乱。自闭症以某种未知方式通过改变神经细胞和突触连接以及组织影响大脑的信息处理。目前只有行为标准可以用来诊断孤独症，但推测其病因有一个复杂的遗传因素。许多de novo基因组重组,包括拷贝数变异(CNV)，已在自闭症和自闭症谱系障碍患者中进行鉴定。这个芯片的基因编码细胞粘附分子，表观遗传因素，细胞骨架组件，离子转运蛋白激酶，代谢酶，磷酸酶，神经递质受体和转录因子。这些蛋白调节轴突生长，轴突引导,中枢神经系统开发(包括功能障碍和维护)，信号传导(通过激素、神经生长因子和神经递质)，突触可塑性和突触传递等过程。这些基因来自主要文献评论和公共数据库中与孤独症谱系障碍相关的最频繁扩增或缺失的基因。这个芯片可做为帮助分类样本的基因型并验证表型生物标记的有效工具来。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。

Genes Implicated in Autism Spectrum Disorders:ADSL, AFF2, AHI1, ATRX, c3orf58, CACNA1C, CDKL5, CHD7, CNTNAP2, CREBBP, DHCR7, DMD, DMPK, FGD1, FMR1, IL1RAPL1, MECP2, NF1, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PTEN, PTPN11, RAI1, RPL10, SHANK3, SLC6A8, SLC9A9, TBX1, TSC1, TSC2, UBE3A, VPS13B.

Candidate Autism Spectrum Disorder Genes:AGAP1, AGMO, ANKRD11, ANKRD12, ASTN1, ASTN2, AUTS2, B3GALT6, CADPS2, CAP2, CDH10, CDH18, CDH9, CNTN3, CNTN4, CTNND2, DISC1, DLGAP2, DPP10, DPP6, DPYD, FHIT, GABRA5, GABRB1, GABRB3, GABRG1, GALNT13, GRID1, GRIK2, GRIN2A, GRM8, GRPR, JMJD1C, KCNMA1, MDGA2, MET, MTF1, NBEA, NEGR1, NLGN1, NRCAM, PAK7, PARK2, PCDH10, PCDH9, PDE9A, PIP5K1B, PRKAG2, PRKCB, RBFOX1, RFWD2, RNF8, SCN7A, SEMA5A, SHANK2, SLC25A12, SLC4A10, SRPK2, STK3, WDR4.

Rare Copy Number Variations:AGAP1, ASTN2, AUTS2, CADPS2, CNTN3, CNTN4, CTNND2, DPP10, DPP6, GABRA5, GALNT13, GRID1, GRM8, MDGA2, NLGN1, PAK7, PARK2, PCDH10, PCDH9, PRKAG2, RFWD2, RNF8, SCN7A.

Deletions:AGMO, ANKRD11, B3GALT6, DPYD, FHIT, NBEA, NRXN, PCDH9, RBFOX1, SLC4A10.

Duplications:CAP2, DLGAP2, GABRG1, PDE9A, WDR4.

Translocation Breakpoint:CDH18, GRPR, KCNMA1, NBEA, NEGR1, PIP5K1B, STK3.

Inversion Breakpoint:JMJD1C, SRPK2, GABRG1.

Association:AGAP1, CADPS2, CDH10, CDH9, DISC1, GABRB1, GABRB3, GRIK2, GRIN2A, MET, MTF1, NRCAM, PRKCB, SEMA5A, SLC25A12.

Linkage:AGAP1, GRIK2, SLC25A12.

Paralogues of Other Implicated or Candidate Genes:ANKRD12, ASTN1, DPP10, SHANK2.

Behavior, Cognition, Learning & Memory:AFF2, CHD7, CNTNAP2, CTNND2, GABRA5, GRIK2, GRIN2A, GRPR, NF1, NIPBL, NLGN3, NLGN4X, NRXN1, PARK2, SHANK3, TBX1.

Central Nervous System Development:AFF2, ATRX, CDKL5, CHD7, CNTN4, CNTNAP2, DISC1, DMD, FMR1, GABRA5, GRIN2A, IL1RAPL1, MDGA2, NF1, NIPBL, NLGN1, NLGN3, NLGN4X, NRCAM, NRXN1, PARK2, PTEN, SHANK3, STK3, TBX1, TSC1, TSC2, UBE3A.

Neurogenesis & Axonogenesis:CACNA1C, CAP2, CDKL5, CNTN4, CNTNAP2, DISC1, DMD, GABRA5, GRIN2A, IL1RAPL1, MDGA2, MET, NF1, NLGN1, NLGN3, NRCAM, NRXN1, PTEN, PTPN11, SEMA5A, SHANK3, TSC1.

Synaptic Plasticity & Transmission:CADPS2, CNTN4, CNTNAP2, CTNND2, DLGAP2, DMD, DMPK, GABRA5, GABRB1, GABRB3, GABRG1, GRIK2, GRIN2A, GRM8, KCNMA1, NF1, NLGN1, NLGN3, NLGN4X, NRCAM, NRXN1, PARK2, PRKCB, SHANK3, TSC1.

Neurotransmitter & Other Receptors:GABRA5, GABRB1, GABRB3, GABRG1, GRID1, GRIK2, GRIN2A, GRM8, MET.

Ion Transporters:CACNA1C, KCNMA1, SCN7A, SLC25A12, SLC4A10, SLC6A8, SLC9A9.

Cell Adhesion & Cytoskeleton:ASTN1, ASTN2, CAP2, CDH10, CDH18, CDH9, CNTN3, CNTN4, CNTNAP2, CTNND2, DISC1, DLGAP2, DMD, DMPK, NEGR1, NLGN1, NLGN3, NLGN4X, NRCAM, NRXN1, PCDH10, PCDH9, SEMA5A.

Anchoring & Scaffolding:NBEA, SHANK2, SHANK3.

Intracellular Transport:CADPS2, FGD1, NBEA, VPS13B.

Kinases & Phosphatases:CDKL5, DMPK, GRPR, PAK7, PIP5K1B, PRKAG2, PRKCB, PTEN, PTPN11, SRPK2, STK3.

Regulation of Transcription & Epigenetics:AFF2, ANKRD11, ANKRD12, ATRX, CHD7, CREBBP, JMJD1C, MECP2, MTF1, NIPBL, NSD1, RAI1, RNF8, TBX1.

RNA Binding & Translation:FMR1, RBFOX1, RPL10, WDR4.

Small G-Protein Signaling:AGAP1, FGD1, NF1, TSC1, TSC2.

Metabolism:ADSL, AGMO, DHCR7, DPYD, FHIT.

Glycosylation:B3GALT6, GALNT13.

Peptidases:DPP10, DPP6.

Ubiquitination:PARK2, RFWD2, UBE3A.

Phosphodiesterase:PDE9A.

Others:AHI1, AUTS2, C3orf58, IL1RAPL1, MDGA2.