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
o-Thalassaemia Mutations 81 IZHVR 3-HVR 37 -SEA -(20.5 -MED
A昌目 CI C2 Rt ward SEA Lt ward