DiGeorge chromosome 22

(A) Schematic of chromosome 22 demonstrating critical DiGeorge syndrome (DGS) region, site of commercially available FISH probes and genes encoded with DGS region.

(B) FISH analysis of metaphase spread using commercially available chromosome 22q11.2 probe (green areas, dashed arrows) and control chromosome 22 probe outside of critical DGS region (red areas, arrowheads). (B1) Patient with chromosome 22q11.2 deletion as demonstrated by binding of 22q11.2 probe to only one chromosome. (B2) Normal control with binding of probe to both copies of chromosome 22.

ARVCF: armadillo repeat gene deleted in velocardiofacial syndrome; CDCrel-1: cell division cycle-related; CDC45L: cell division cycle 45; CLDN5: claudin 5; CLTCL1: clathrin, heavy chain-like 1; COMT: catechol-O-methyltransferase; CRKL: V-CRK avian sarcoma virus CT10 oncogene homolog-like; DGCR6: DiGeorge critical region gene 6; DVL1L1: dishevelled segment polarity protein 1 pseudogene 1; FISH: fluorescence in situ hybridization; GP1bb: glycoprotein 1b (platelet), beta polypeptide; GSCL: goosecoid homeobox 2; HCF2: serpin peptidase inhibitor, clade D (heparin cofactor), member 1; HIRA: histone cell cycle regulator; IDD: integral membrane protein deleted in DiGeorge syndrome; LAMC1: laminin, gamma 1 (formerly LAMB2); LZTR1: leucine-zipper-like transcription regulator 1; NLVCF: mitochondrial ribosomal protein L40; PIK4CA: phosphatidylinositol 4-kinase, catalytic, alpha; PNUTL1: septin 5; PRODH: proline dehydrogenase (oxidase 1); P2RX L1: purinergic receptor P2X, ligand gated ion channel, 6; RANBP1: RAN binding protein 1; SLC7A4: solute carrier family 7, member 4; SLC25A1: solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1; SNAP29: synaptosomal-associated protein, 29kDa; STK22 A: homolog of mouse serine/threonine protein kinase 22 D; TBX1: T-box transcription factor; TR: T cell receptors; TUPLE1: TUP-like enhancer of SPLIT1 (a transcription regulator); UFD1L: ubiquitin fusion degradation 1 like (yeast); ZNF74: zinc finger protein 74.

Graphic 65172 Version 4.0

خرید پکیج

DiGeorge chromosome 22