|
Status |
Public on Nov 01, 2010 |
Title |
Non-affected sibling |
Sample type |
genomic |
|
|
Source name |
Peripheral blood
|
Organism |
Homo sapiens |
Characteristics |
gender: Female tissue: Peripheral blood histological type: Peripheral blood disease state: healthy
|
Extracted molecule |
genomic DNA |
Extraction protocol |
Extraction of genomic DNA from peripheral blood was performed by standard phenol-chlorophorm method
|
Label |
Cy3
|
Label protocol |
200ng of genomic DNA was whole-genome amplified in an overnight reaction at 37ºC using amplification master mix (WG-MSM) and primer/neutralization mix (WG-MA2). After incubation the amplified DNA was fragmented with fragmentation mix (WG-FMS), precipitate
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|
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Hybridization protocol |
RA1 resuspended DNA was loaded onto BeadChips arrays. After overnight incubation at 48ºC, single-base extension and allele-specific staining was performed (XC1, XC2, TEM, STM, ATM, XC3, PB1) on a Teflow chamber rack system.
|
Scan protocol |
After allele-specific staining BeadChip arrays were coated with PB1/XC4/ethanol , dried for 1 hour and scanned on a BeadArray Reader (Illumina).
|
Description |
Genomic DNA extracted from peripheral blood
|
Data processing |
Image data was analyzed using Beadstudio 3.1.3 with GT module 3.2.33 (Illumina).
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|
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Submission date |
May 21, 2010 |
Last update date |
May 21, 2010 |
Contact name |
Victor Martinez-Glez |
E-mail(s) |
vmartinezg.hulp@salud.madrid.org
|
Organization name |
HULP
|
Department |
INGEMM
|
Street address |
Paseo la Castellana 261
|
City |
Madrid |
ZIP/Postal code |
28046 |
Country |
Spain |
|
|
Platform ID |
GPL8887 |
Series (1) |
GSE21958 |
Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI) |
|