DiGeorge (22q11) / 22q13 (SHANK3)

digeorge-22q11-22q13-shank3

DiGeorge "N25" (22q11) / 22q13 (SHANK3)

The DiGeorge “N25” probe was the first commercial microdeletion probe for chromosome 22q and detects the locus D22S75. This marker is located between DGCR2 and CLH22 (Clathrin). Both genes have been extensively investigated and their role in DiGeorge syndrome is well established.

The DiGeorge ”N25” region probe covers the marker “N25” (D22S75) and adjacent region of CLH22 (Clathrin gene region) and DGCR2 (DiGeorge critical region gene 2).

The 22q13 (SHANK3) probe can act as an internal control for the DiGeorge "N25" (22q11) probe and can be separately used in the diagnosis of the 22q13.1 Syndrome (Phelan-McDermid Syndrome) in where the DiGeorge "N25" (22q11) probe acts as an internal control.

DiGeorge T-Box1 (22q11) / 22q13 (SHANK3)

The 22q11 deletion in DiGeorge syndrome/VCFS is characterized by defects in the derivatives of the pharyngeal apparatus. TBX1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries. Haploinsufficiency of TBX1 has been demonstrated to be sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice. The TBX1 is also located within the minimal critical DiGeorge region in humans.

The DiGeorge TBX1 region probe is optimized to detect copy numbers of the TBX1 gene region at 22q11.2.

The 22q13 (SHANK3) probe can act as an internal control for the DiGeorge T-Box1 (22q11) probe and can be separately used in the diagnosis of the 22q13.1 Syndrome (Phelan-McDermid Syndrome) in where the DiGeorge T-Box1 (22q11) probe acts as an internal control.

DiGeorge "TUPLE" (22q11) / 22q13 (SHANK3)

The DiGeorge “Tuple” (22q11) probe targets a putative transcriptional regulator (TUPLE1 or HIRA, HIR histone cell cycle regulation defective homolog A) which also has been identified to lie within the commonly deleted region DiGeorge syndrome. This probe is located distally to the “N25” probe. The DiGeorge “Tuple” region probe is optimized to detect copy numbers of the Tuple (Hira) gene region at 22q11.2.

References:

Holmes et al. 1997, Hum Mol Genet, 6: 357-367.
Luciani, et al, 2003, J Med Genet, 40: 690-696.
Lorain at al, 1996, Genome Res, 6: 43-50
Lindsay et al. 2001, Nature, 410: 97-101.
Merscher et al. 2001, Cell, 104: 619-629.
Paylor et al. 2006, PNAS, 103: 7729-7734.
Sirotkin et al. 1996, Hum Mol Genet, 5: 617-624.
Wilson, et al, 2003, J Med Genet ,40: 575-584.

  • KBI-40103
    MD DGCR TUPLE (22q11) /22q13 (SHANK3)10T
    Checar Disponibilidade
  • KBI-45103
    MD DGCR TUPLE (22q11) / 22q13 (SHANK3)5T
    Checar Disponibilidade
  • KBI-40102
    MD DGCR N25 (22q11) / 22q13 (SHANK3)10T
    Checar Disponibilidade
  • KBI-45102
    MD DGCR N25(22q11)/ 22q13 (SHANK3)5T
    Checar Disponibilidade
  • KBI-40104
    MD DGCR T-Box1 (22q11)/22q13 (SHANK3)10T
    Checar Disponibilidade
  • KBI-45104
    MD DGCR T-Box1 (22q11)/22q13 (SHANK3) 5T
    Checar Disponibilidade

Especificaç÷es de Produtos

Especificaç÷es de Produtos

KBI-40103
KBI-45103
KBI-40102
KBI-45102
KBI-40104
KBI-45104

Documentos

Documentos

Recursos

Recursos

DiGeorge "N25" (22q11) / 22q13 (SHANK3)

The DiGeorge “N25” probe was the first commercial microdeletion probe for chromosome 22q and detects the locus D22S75. This marker is located between DGCR2 and CLH22 (Clathrin). Both genes have been extensively investigated and their role in DiGeorge syndrome is well established.

The DiGeorge ”N25” region probe covers the marker “N25” (D22S75) and adjacent region of CLH22 (Clathrin gene region) and DGCR2 (DiGeorge critical region gene 2).

The 22q13 (SHANK3) probe can act as an internal control for the DiGeorge "N25" (22q11) probe and can be separately used in the diagnosis of the 22q13.1 Syndrome (Phelan-McDermid Syndrome) in where the DiGeorge "N25" (22q11) probe acts as an internal control.

DiGeorge T-Box1 (22q11) / 22q13 (SHANK3)

The 22q11 deletion in DiGeorge syndrome/VCFS is characterized by defects in the derivatives of the pharyngeal apparatus. TBX1, a member of the T-box transcription factor family, is required for normal development of the pharyngeal arch arteries. Haploinsufficiency of TBX1 has been demonstrated to be sufficient to generate at least one important component of the DiGeorge syndrome phenotype in mice. The TBX1 is also located within the minimal critical DiGeorge region in humans.

The DiGeorge TBX1 region probe is optimized to detect copy numbers of the TBX1 gene region at 22q11.2.

The 22q13 (SHANK3) probe can act as an internal control for the DiGeorge T-Box1 (22q11) probe and can be separately used in the diagnosis of the 22q13.1 Syndrome (Phelan-McDermid Syndrome) in where the DiGeorge T-Box1 (22q11) probe acts as an internal control.

DiGeorge "TUPLE" (22q11) / 22q13 (SHANK3)

The DiGeorge “Tuple” (22q11) probe targets a putative transcriptional regulator (TUPLE1 or HIRA, HIR histone cell cycle regulation defective homolog A) which also has been identified to lie within the commonly deleted region DiGeorge syndrome. This probe is located distally to the “N25” probe. The DiGeorge “Tuple” region probe is optimized to detect copy numbers of the Tuple (Hira) gene region at 22q11.2.

References:

Holmes et al. 1997, Hum Mol Genet, 6: 357-367.
Luciani, et al, 2003, J Med Genet, 40: 690-696.
Lorain at al, 1996, Genome Res, 6: 43-50
Lindsay et al. 2001, Nature, 410: 97-101.
Merscher et al. 2001, Cell, 104: 619-629.
Paylor et al. 2006, PNAS, 103: 7729-7734.
Sirotkin et al. 1996, Hum Mol Genet, 5: 617-624.
Wilson, et al, 2003, J Med Genet ,40: 575-584.

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