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SNP GenotypingÀ»À§ÇÑ BeadArray Technology´Â  Golden Gate Assay (Sentrix Array Metrix)¿Í Infinium Assay (Sentrix Beadchip)·Î ÀÌ·ç¾îÁü. Golden Gate Assay´Â ¿¬±¸ÀÚ°¡ ¿øÇÏ´Â SNP¸¦ 96-¿¡¼­ 1536-plex±îÁö ¼±¹ßÁ¦ÀÛÇÏ¿© genotypingÇÒ ¼ö ÀÖÀ¸¸ç, Infinium Assay´Â Whole Genome¿¡ Á¸ÀçÇÏ´Â SNP °¡¿îµ¥ Focused content (exon-centric, non-synonymous SNP µî)³ª Haplotype tagging SNP·Î ±¸¼ºµÈ Whole Genome SNP¸¦ genotypingÇÒ ¼ö ÀÖ´Â ¹æ¹ýÀÓ


1. Golden Gate Assay
Golden Gate Assay´Â 96- ¿¡¼­ 1536-plexÀÇ ±Ô¸ð·Î GenotypingÀÌ °¡´ÉÇÏ¸ç ¸ðµç SNP´Â ÇϳªÀÇ OPA (Oligo Pool All)·Î ±¸¼ºµÊ. ASPE (Allele Specific Primer Extension)¹æ¹ýÀ¸·Î ÁõÆøµÈ oligoµéÀ» SAM (Sentrix Array Metrix)¿¡ Hybridization½Ã۰í BeadArray Reader (Çü±¤ Scanner)¸¦ ÅëÇØ ÀоîÁø SNP °¢°¢ÀÇ Intensity Data´Â BeadStudio Software¸¦ ÀÌ¿ëÇÏ¿© ÀÚµ¿À¸·Î GenotypeÀÌ °áÁ¤µÊ. Golden Gate Assay´Â SBE (Single Base Extension)³ª Taqman ¹æ¹ýÀ¸·Î ½ÇÇè °¡´ÉÇÑ ±Ô¸ð (100°³ ÀÌÇÏ SNP) ÀÌ»óÀÇ SNP¸¦ GenotypingÇϱâ À§ÇÑ ÃÖÀûÀÇ ¹æ¹ýÀÓ

 

 



2. Infinium Assay (Whole Genome Genotyping)

Infinium Assay´Â Focused content (exon-centric, non-synonymous SNP µî)³ª Haplotype tagging SNP·Î ±¸¼ºµÈ Whole Genome SNP¸¦ genotypingÇÒ ¼ö ÀÖ´Â ¹æ¹ýÀÓ. Whole Genomic AmplificationµÈ DNA¸¦ È­ÇÐÀû ¹æ¹ýÀ¸·Î Random FragmentationÇÏ¿© Chip¿¡ Hybridization½Ã۸ç SBE (Single Base Extension)³ª ASPE (Allele Specific Extension)¹ÝÀÀÀ» ÅëÇØ SNP °¢°¢ÀÇ GenotypeÀ» ºü¸¥ ½Ã°£¾È¿¡ ´ë·®À¸·Î ºÐ¼®ÇÒ ¼ö ÀÖ´Â ¹æ¹ýÀÓ. Restriction EnzymeÀ» ÀÌ¿ëÇÏÁö ¾Ê°í È­Çй°ÁúÀ» ÀÌ¿ëÇÏ¿© Random FragmentationÀ» Çϱ⠶§¹®¿¡ Genome ³» À§Ä¡ÇÏ´Â ¸ðµç SNP¸¦ Genotyping ÇÒ ¼ö ÀÖÀ½

 

Standard Infinium BeadChips:

1. Human-1 (Exon-Centric, 109K)

2. NS-12 (Non-synonymous SNPs, 1.3K)

3. HumanHap240S (HapMap TagSNPs, 240K)

4. HumanHap300 (HapMap TagSNPs, 317K)

5. HumanHap550 (HapMap TagSNPs, 550K)

6. HumanHap650Y (HumanHap550+Yoruba Specific TagSNPs, 650K)

 

Custom Infinium BeadChips:

1. iSelect (User selected SNPs, 7.6-60K)

2. HumanHap300+ (HumanHap300K+User selected 60K SNPs)

3. HumanHap550+ (HumanHap550K+User selected 120K SNPs)

 

 


3. Whole Genome Genotype Data Management

 

Golden Gate Assay ¹× Infinium Assay °á°ú´Â BeadStudio Software¸¦ ÀÌ¿ëÇÏ¿© Genotype Calling »Ó¸¸¾Æ´Ï¶ó CNV (Copy Number Variation), LOH (Loss Of Heterozygosity)¸¦ µ¿½Ã¿¡ ºÐ¼®ÇÒ ¼ö ÀÖÀ¸¸ç, HelixTree µîÀÇ Analysis Software¸¦ ÀÌ¿ëÇÏ¿© Whole Genome Association Analysis¸¦ ´Ü½Ã°£ ³»¿¡ ¼öÇàÇÏ¿© Áúº´°ü·Ã SNP Ž»öÀ» À§ÇÑ Total SolutionÀ» Á¦°øÇÔ