1. 숙명여자대학교 / 생명과학과 박종훈 Biotechnology 의 최신 동향

2. 1. Genome: > 75 yrs 2. Genomics : T. Roderick in 1986 Structural genomics Functional genomics Functional Genomics

3. Post-Genome Era Unknown Genes Known Genes Functional Genomics cDNA Microarray Proteomics Bioinformatics Finding of novel functional genes Disease Drug target Human Genes  36,655

4. In vovo functional genomics?

5. Germline modification Isolate Blastocyst Derive ES cell line Gene Targeting Inject into Blastocyst Transfer to surrogate female Chimera Host blastocyst derived progenyES cell-derived progeny

6. Polycystic Kidney Disease (PKD) Autosomal Dominant Polycystic Kidney Disease (ADPKD) PKD1 - chromosome 16p 13.3 PKD2 - chromosome 4p21-q23 Non-PKD1-PKD2 PKHD1 - chromosome 6p 21.1-p12 Autosomal Recessive Polycystic Kidney Disease (ARPKD)

7. Structure of PKD1

8. Structure of PKD2

9. Characterization of mouse pkd2 and human PKD2 gene pkd1 PKD2 Physical spanning: ~42 kb 68 kb Transcript Size: 5.2 kb 5.4 kb ORF: ~2.9 kb 2.9 kb Amino Acids: 966 968 Identical at Nucleotide level: ~87% Homologous at AA level: 90.8% Functional Domain: conserved Location: Chr. 5 Chr.4q21-23 Expression Level: Five fold greater in High in human ovary, mouse kidney than fetal and adult kidney, other organs testis, fetal lung, and intestine

10. Targeting of the Pkd2 Locus

11. The Pkd2 Null Mutation

12. EF-hand Domain

13. Primers for Mutagenesis Constructs of PKD2 C-terminal region 6th TM PGW2 B8-1 PGW3 PGW4 PGW5 EF-hand PKD2

14. -X-Z 6th TM B8-1 EF-hand PKD2 PGW6 -X-Z A B GST B8-1(W) B8-1(M) M GST PGW6(W) PGW6(-Z) PGW6(-X) 206 48 35 29 20 206 48 35 29 20 C

15. What is cDNA microarray?

16. Sample Preparation Biological Question Microarray Life Cycle Microarray Reaction Microarray Detection Data Analysis & Modeling

17. DNA Chip 이란 무엇인가 ? 생명과학 + 전자, 기계공학 핵심기술 : 1) DNA Mcroarray 2) Biochip 3) Lab on a Chip DNA Chip

18. GeneFilters Microarrays a. Spotting Format b. Control c. Induced Sample

19. Selected DNA Microarray Photochemical technologyInk-Jet technologyGlass Slide

20. 1. Gene Expression Analysis

21. Technology Access Target preparation Probe preparaion Data analysis

22. cDNA Microarray Analysis of DNA copy-number changes a b c

23. 2. Affymetrix Chips

24. GeneChip Probe Array Synthesis Process 1. Light 2. Deprotected area Activation 3. Chemical coupling 4. New Mask 5. Coupling 6. Repeating PROCESS :

25. Sequence Analysis Array

26. Genotyping Arrays

27. Maskless Array DNA Chip Technology UV Light Source Filter Digital Micromirror Array Condenser From Computer From DNA Synthesizer Projection System DNA Chip being written

28. 3. Nanogen DNA Chip Semiconductor Microchip Permeation Layer

29. Electronic Addressing of Nanogen DNA Chip

30. 4. Hightlights of Clinical Micro Sensors DNA Chip CMS Technology Handheld DNA Chip Reader