1. Introduction of Taiwanese Disease Gene
SNP Database - Concept and Outlook
National Health Research Institutes
Genomic Research Center
勤沛儒

2. SNP (Single Nucleotide Polymorphism)
• 1/700~1000 base pair in human
genome
• General Definition: 1/50 people
(1/100 alleles) in whole
population
• Constant and stable in a
population
• Used as a marker

3. SNP screening method
• Direct sequence
approach
• dHPLC (denatured High
Performance Liquid
Chromatography)
• SNPSHOT

4. Integrated SNP database in the world
• NCBI dbSNP
• Celera
• DoubleTwist

5. Motion of TDGSD
• Vertical-oriented
• Localization
• Easy-used
• HCR gene SNPs as
the model

6. Flowchart

7. Nickson DA. et al. (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions
using fluorescence-based resequencing, Nucleic Acids Res.,25:2745-2751

8. Example of polyphred.out

9. Current progress-Cont.
• Dry bench
– The final version of web interface has established
– Taiwanese Pathogenic Gene SNP Database
– Software
• Operation System
– Mandrake 8.2 (2.4.18)
• Database
– MySQL 3.23.41
• Database Manager System
– phpMyAdmin 2.2.5
• Server Remoted-Manager System
– Webmin 0.99