Miller-Dieker PAFAH1B1 (17p13)/ Smith-Magenis RAI1 (17p11) probe hybridized to a normal metaphase (2RG).

RUO - PAFAH1B1 / 17p11

ruo-pafah1b1-17p11

The Miller-Dieker lissencephaly syndrome appears to be caused by deletion of several genes on 17p including the PAFAH1B1 (previously known as LIS1) gene.About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region at 17p13.3. Smith-Magenis is caused by a deletion of 17p11.2. The RAI1 (previously known as SMCR, KIAA1820 or SMS) gene region has been identified to be deleted in more than 90% of Smith-Magenis syndrome patients. The Miller-Dieker PAFAH1B1 region probe is optimized to detect copy numbers of the PAFAH1B1 region at 17p13. The Smith-Magenis RAI1 region probe is optimized to detect copy numbers of the RAI1 gene region at 17p11.

References:

Kuwano et al, 1991, Am. J. Hum. Genet., 49; 707-714.

Cardoso et al, 2003, Am. J. Hum. Genet., 72; 918-930.

Smith et al, 1986, Am. J. Med. Genet., 24; 393-414.

Greenberg et al, 1991, Am. J. Med. Genet., 49; 1207-1218.

Vlangos et al, 2005, Am. J. Med. Genet., 132; 278-282.

  • KI-40101
    PAFAH1B1 (17p13) / RAI1 (17p11)

製品仕様書

製品仕様書

KI-40101
Research
Research Use Only
100 µL
Dual Color > Red, Green
Cells
Deletion
Gene Region-Specific
Fluorescent
Ready-to-Use
Manual Reagent

カタログ・取扱説明書など

カタログ・取扱説明書など

関連資料

関連資料

The Miller-Dieker lissencephaly syndrome appears to be caused by deletion of several genes on 17p including the PAFAH1B1 (previously known as LIS1) gene.About 15% of patients with isolated lissencephaly and more than 90% of patients with Miller-Dieker syndrome have microdeletions in a critical 350-kb region at 17p13.3. Smith-Magenis is caused by a deletion of 17p11.2. The RAI1 (previously known as SMCR, KIAA1820 or SMS) gene region has been identified to be deleted in more than 90% of Smith-Magenis syndrome patients. The Miller-Dieker PAFAH1B1 region probe is optimized to detect copy numbers of the PAFAH1B1 region at 17p13. The Smith-Magenis RAI1 region probe is optimized to detect copy numbers of the RAI1 gene region at 17p11.

References:

Kuwano et al, 1991, Am. J. Hum. Genet., 49; 707-714.

Cardoso et al, 2003, Am. J. Hum. Genet., 72; 918-930.

Smith et al, 1986, Am. J. Med. Genet., 24; 393-414.

Greenberg et al, 1991, Am. J. Med. Genet., 49; 1207-1218.

Vlangos et al, 2005, Am. J. Med. Genet., 132; 278-282.

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