Gene-specific Copy Number Variation Probe-HBB-LCR
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Catalog: |
CNVFP-HBB-LCR-06528 |
Classification: |
Copy Number Variation |
Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (HBB-LCR). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services. |
Application: |
HBB-LCR Gene-specific copy number variation probes are mainly used to detect the copy number variation related to HBB-LCR genes. This product achieves the purpose of detection by hybridizing with the HBB-LCR gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH. |
Category: |
Copy Number Variation |
Probe Kits Volume (µL): |
40 μL |
Quantity: |
20 Tests |
Hybridization Solution (µL): |
200 μL |
Turnaround Time: |
7-10 Business Days |
Shipping Time: |
1-2 Day Expedited Shipping |
Storage Conditions: |
Store at -20℃ and avoid light; |
Shipping Conditions: |
-20℃ |
Gene Details
Gene Name |
Beta-globin Locus Control Region |
Gene Summary [Provided by RefSeq] |
This genomic sequence, which spans 34 kb upstream of the hemoglobin subunit epsilon 1 (HBE1) gene, represents the 5' regulatory region of the human beta-globin gene cluster on chromosome 11. It includes a locus control region (LCR), which can confer developmentally regulated, position-independent and copy number-dependent expression on linked beta-globin genes in transgenic mice. The LCR is the major element controlling expression of the downstream beta-globin genes (epsilon, G-gamma, A-gamma, delta and beta, or HBE1, HBG2, HBG1, HBD and HBB, respectively), which are organized on the chromosome in their order of developmental expression. This region includes several DNase I hypersensitive sites (HSs; 5'HS1-5'HS7 in the entire region, 5'HS1-5'HS5 in the LCR), some of which possess enhancer activity in erythroid cells and/or function in synergy (e.g., the 5'HS2 and 5'HS3 enhancers). The HSs bind to erythroid transcription factors and are associated with regulatory complexes involved in beta-globin gene expression and the organization of local chromatin domain structure. This region also includes matrix attachment regions (MARs), silencers, an enhancer-blocking element (at 5'HS5), and a retroviral element (ERV-9) with enhancer activity in erythrocytes. Chromosome conformation capture assays show that the LCR is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with distal 5' and 3' HSs (HS-111 and 3'HS1) and the active beta-globin gene promoters. The LCR also regulates replication initiation at a replication origin (IR) in the vicinity of the adult beta-globin (HBB) gene. Mutations in this LCR result in beta-thalassemias and beta-hemoglobinopathies. A large naturally-occurring deletion, which includes the sequence spanning 5'HS2-5'HS7, results in Hispanic gamma-delta-beta thalassemia and a closed chromatin conformation across the beta-globin locus. [provided by RefSeq, Mar 2017] |
Gene Symbol |
HBB-LCR |
Location |
11p15.4 |
Chromosome |
Chromosome11 |
Coordinates |
This gene maps to 5291370-5275849 in GRCh37 coordinates. |
Species |
Human |
Dye Colors:
OR
RE
GO
GR
AQ
Order Sheet
Number |
Dye Color |
Order Name |
Absorbance Maximum |
Emission Maximum |
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1 |
OR
|
CNVFP-HBB-LCR-06528-OR |
573nm |
548nm |
|
2 |
RE
|
CNVFP-HBB-LCR-06528-RE |
599nm |
580nm |
|
3 |
GO
|
CNVFP-HBB-LCR-06528-GO |
551nm |
525nm |
|
4 |
GR
|
CNVFP-HBB-LCR-06528-GR |
515nm |
491nm |
|
5 |
AQ
|
CNVFP-HBB-LCR-06528-AQ |
467nm |
418nm |
|
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