案例英文班生化遗传病1464.pptxVIP

Inherited biochemical disorders;Inherited biochemical disorders;Hemoglobinopathies and Thalassemia--Sickle cell disease; Thalassemia Disorders of plasma protein--Hemophilia Disorders of enzyme protein--PKU; Galactosemia; HGPRT deficiency Disorders of receptor protein—LDL deficiency Disorders of membrane carrier protein-- Wilsons disease OTHERS: Sex Reversal; Retinoblastoma ;Single base variation （单个碱基变异） Missense(错义突变)：HbS (β 6谷→缬）β链第6位密码子 GAA(GAG)→ GTA(GTG) Nonsense (无义突变)：Hb Mckees Rorks β145UAU(酪) → UAA (终止密码) 终止密码突变：Hb Constant Spring α142 UAA(终止密码)→ CAA(谷氨酰胺)直到173位出现下一个终止密码为止。; Codon deletion/insertion（密码子缺失或插入）; Fusion gene（融合基因）;Genetic defect: β6谷→缬 ααβsβs Hb S/S normal: CCT-GAG-GAG Hb S: CCT-GTG-GAG Clinical manifestation --Progressive hemolytic anemia with splenomegaly（脾肿大） -- Vaso-occlusive crises（血管阻塞危象） -- Abdominal crises Inheritance：AR;;DNA analysis for the Czarina revealed an AG intronic mutation located 3 bp upstream of exon 4 (intron–exon boundary IVS3-3AG) of the gene coding for the coagulation FIX at the heterozygotous stage, due to a mixture of normal and mutated sequences found among female carriers.;Disorders of enzyme protein(酶蛋白病);Genetic defect: Phenylalanine hydroxylase deficiency, the gene is located on 12q22-q24.1;Genetic defect: The lack of DHPR (Dihydropteridine reductase) leads to a deficiency of tetrahydrobiopterin (XH4) the gene is located on 4p15.1-16.1;Classical phenylketonuria Mental retardation, IQ at or below 20 Hypopigmentation Blue eyes, Blonde hair, Pale skin Mousey or musty odour Eczema (湿疹 ) Neurological symptoms Inheritance: AR;Pernicious phenylketonuria Major clinic features: --There are more direct adverse effects on brain development --It is not respond to the dietary treatment. Now we can treat the patients with tetrahydrobioptrrin(XH4), and levodopa. Inheritance: AR;Galactosemia (半乳糖血症);Major clinical features： Symptoms develop days or weeks after first milk