genetic diagnosis-遗传病诊断-1-王小竹.pptVIP

Symptomatic diagnosis Clinical diagnosis Pedigree analysis Laboratory tests Pedigree analysis Symptomatic diagnosis(2) Laboratory studies Cytogenetic test Biochemical test Gene test Cytogenetic test Diagnosis: for chromosomes diseases or/and cancer（research). Technique: Karyotype-G banding Fluorescence In Situ Hybridization( FISH) Comparison Genetic Hybridization (CGH） Material: Peripheral Blood- lymphocyte Amniotic fluid Chorionic villus Tissue  Clinical example(1)- Karyotype Lab testing- Karyotype Collecting material: Peripheral Blood, Amniotic fluid, Chorionic villus Harvesting cells Culturing cells 1-2 days Arresting cells in metaphase with colchicine, treating with 0.075M Potassium Chloride and fixed with fixative solution. Spreading cells on slide, which can be used for FISH or Karyotype. staining with Giemasa. Counting chromosomes in 20 representative cells Capturing image of 5 “best” cells and construct karyotypes for each Fluorescence in situ hybridization( FISH) Biochemical test Diagnosis: for metabolic diseases Diagnosed by enzyme assay Material: Peripheral Blood- lymphocyte Amniotic fluid Chorionic villus Biochemical tests for metabolic diseases Gene test Means of closely linked markers- to linkage analysis. PCR-STR(PCR) RFLP（Southern blotting) Direct detection of the mutation. PCR-sequencing to detect point mutation PCR-SSCP to detect point mutation MLPA (Multiplex Ligation Probes Assay) to detect duplication/deletion Southern blotting to detect duplication/deletion Clinical Example（1）-DMD/BMD (XR) Presymptomatic diagnosis Concept: make a diagnosis for genetic diseases before appearing clinical symptom early diag