遺傳性疾病ppt課件(編輯修改稿)
2025-03-20 22:14 本頁面
【文章內(nèi)容簡介】 delay, simian crease and abnormal dermatoglyphics , microcephaly and macrocephaly ,abnormal of genital ans,malformation of limb and extremities, spine and anal abnormal ?specific features:fair skin and unpleasant odor of PKU, White skin of albinsim, facial abnormalities of Down syndrome and thalassemia Diagnosis approaches of geic disorders Samples used ?blood ?amniotic fluid ?skin ?hair ?different kind of cells approaches ?chromosome analysis ?biochemical test ?Enzyme analysis ?gene analysis ?pedigree analysis ?dermatoglyphics Treatment of geic disorders ?Most geic disorders couldn’ t be cured. ?better care from family ?better welfare of the society ?function training ?gene therapy has show us a bright future, ADA(Adenosine Deaminase) deficiency, can be treated by gene therapy. (bone marrow transplantation and stem cell transplantation belong to gene therapy,223。thalassemia can be treated by BMT) Treatment of some single gene diseases ?Restrict specific food (Dietary restriction) : PKUphenylalanine, G6PD deficiencybroad bean and aspirine ?Discharge harmful substances ( wilson diseasecopper, thalassemiairon)。 ?Supply lacking substances (hemophilia A factor 8) Prevention of geic disorders ?Geic counseling, marriage guidance and risk assessment ?find the carrier of the parents with abnormal gene ?prenatal diagnosis by amniocentesis and chorionic villous biopsy DOWN SYNDROME ?First described by John Langdon Down in 1866, the syndrome is name
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