Application of Biotechnology in Research ·Research VS Clinic ·MD→PhD ·Value innovation 。差異化
Genetic disorders 0 Genetic Diagnosis(-) Genetic counseling Genetic Diagnosis(+】 222 Prenatal Diagnosis P't cares
11p15.5
Population genetic screening ·海洋性貧血之篩檢 -利用紅血球MCV,MCH的大小作初步 篩檢 -再用基因診斷確定是否為带因者 -進行產前診断
孕烯海洋性貧血韩检之作業流程国 MCY >80 MCV80 健為是否具備高效 夫变 饔玉骁性 率之帶因者檢驗計畫 性黄血 础 夫麦高同型带因者 血液分析
Lab Works for Diagnosis of Thalassemia Check MCV,MCH Check Hb electrophoresis(Hb A2,HbE,Hb F.) Check Ferritin Genetic analysis(Genotyping)
Techniques Applied for Genetic Analysis of Thalassemia ·Southern blotting PCR-based techniques -PCR-RFLP -ASO ←■ Gap PCR -Direct sequencing DHPLC analysis -Quantitative PCR analysis MALDI-TOF analysis
Method Advantages Disadvantages single-strand conformation Simple,cheap, Sequences <200 polymorphism(SSCP) bp only. equipment Limited sensitivity. Only way to detect Laborious, Southern blot expensive, major deletions and rearrangements Need severalμgof DNA. Polymerase chain reaction High sensitivity. Experimentally restriction fragment Shows position of difficult. length polymorphism change. Poor quality (PCR-RFLP) No nasty reagents results. allele-specific oligonucleotide High sensitivity. Limited range of hybridization (ASOs) genes. Detect all changes. Expensive,can be Direct sequence Mutations fully hard to interpret. characterized
o-Thalassaemia Mutations 81 IZHVR 3-HVR 37 -SEA -(20.5 -MED
A昌目 CI C2 Rt ward SEA Lt ward