自闭症谱系障碍拷贝数PCR 芯片 Autism Spectr

Human Autism Spectrum Disorders 384HC Copy Number PCR Array
The Human Autism Spectrum Disorders qBiomarker Copy Number PCR Array profiles the copy number of 95 genes reported to undergo frequent genomic alterations in autism spectrum disorders. Impaired social interaction and communication as well as restricted and repetitive behavior characterize autism, a neural development disorder that presents before three years of age. Autism affects the brain’s information processing by changing, in unknown ways, how nerve cells and their synapses connect and organize. Only behavioral criteria can currently be used to diagnosis autism, but its cause is presumed to have a complex genetic component. Many de novo genomic rearrangements, including copy number variations (CNV), have been identified in patients with autism and autism spectrum disorders. The genes on this array encode cell adhesion molecules, epigenetic factors, cytoskeleton components, ion transporters, kinases, metabolic enzymes, phosphatases, neurotransmitter receptors and transcription factors. These proteins regulate processes such as axon growth, axon guidance, central nervous system development (including dysfunction and maintenance), signaling (via hormones, nerve growth factors, and neurotransmitters), synaptic plasticity and synaptic transmission. Genes were chosen from the most frequently amplified or deleted genes relevant to autism spectrum disorders based on a critical review of 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 facilitates the analysis of 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 allows routine and reliable copy number profiling in any research. 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

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.