分子病与遗传性酶病

1、会计学1分子病与遗传性酶病分子病与遗传性酶病2第1页/共121页3第2页/共121页4第3页/共121页5掌掌握握第4页/共121页6质质量量蛋白蛋白质质DNARNAtRNA mRNA疾病疾病第5页/共121页7掌掌握握第6页/共121页8第7页/共121页9280,000,000 Hb/cell第8页/共121页10第9页/共121页11F8HisE7His第10页/共121页12第11页/共121页13基因基因簇簇熟熟悉悉第12页/共121页14Hb A (22)Hb F (22)Hb F (22 , 1%)Hb A2 (22 , 2%)熟熟悉悉第13页/共121页15LCR了了解解第14

2、页/共121页16掌掌握握第15页/共121页17功能丧功能丧失失疾病严重疾病严重程度程度质质量量掌掌握握第16页/共121页18-globin-globin-地中海贫血地中海贫血-globin-globin-globin-globin正常正常-地中海贫血地中海贫血过量的珠过量的珠蛋白在胞蛋白在胞内堆积内堆积损害细损害细胞膜胞膜破坏破坏红细红细胞胞 贫血贫血掌掌握握第17页/共121页19掌掌握握第18页/共121页20第19页/共121页21第20页/共121页22熟熟悉悉第21页/共121页23第22页/共121页24第23页/共121页25掌掌握握第24页/共121页26第25页/共12

3、1页27第26页/共121页28The classic hair on end appearance on plain skull radiographs of a patient with -thalassemia major第27页/共121页29熟熟悉悉第28页/共121页30了了解解第29页/共121页31掌掌握握第30页/共121页32熟熟悉悉第31页/共121页33第32页/共121页34第33页/共121页35第34页/共121页36第35页/共121页37掌掌握握第36页/共121页38掌掌握握第37页/共121页39第38页/共121页40第39页/共121页41GluVal

4、第40页/共121页42镰刀形血红蛋白纤维镰刀形血红蛋白纤维Fibres of Sickle Hemoglobin第41页/共121页43镰刀形血红蛋白纤维镰刀形血红蛋白纤维Fibres of Sickle Hemoglobin第42页/共121页44镰刀形血红蛋白纤维镰刀形血红蛋白纤维Fibres of Sickle Hemoglobin 横截面横截面第43页/共121页45第44页/共121页46第45页/共121页47第46页/共121页48第47页/共121页49第48页/共121页50第49页/共121页51掌掌握握第50页/共121页52熟熟悉悉第51页/共121页53第52页/共

5、121页54第53页/共121页55第54页/共121页56第55页/共121页57熟熟悉悉第56页/共121页58第57页/共121页59第58页/共121页60第59页/共121页61第60页/共121页62第61页/共121页63熟熟悉悉第62页/共121页64熟熟悉悉第63页/共121页65第64页/共121页66第65页/共121页67第66页/共121页68第67页/共121页69第68页/共121页70第69页/共121页71第70页/共121页72第71页/共121页73第72页/共121页74了了解解第73页/共121页75第74页/共121页76熟熟悉悉第75页/共121页

6、77第76页/共121页78第77页/共121页79了了解解第78页/共121页80第79页/共121页81第80页/共121页82、灯检查可见角膜混浊。第81页/共121页83第82页/共121页84n了了解解第83页/共121页85第84页/共121页86Trae I was diagnosed in 1991 at age 22 with AMD. I also have a sister who is severely affected with the disease. She was diagnosed 13 year ago at age 20. In college, I be

7、gan to notice that it was getting difficult to walk up stairs. I would get very winded, and my muscles would burn. After two muscle biopsies, I was diagnosed with AMD.After college I married and got pregnant. In my fifth month, I began to have serious problems. I became extremely weak and short of b

8、reath and was unable to walk more than about 10 feet. After Haleys birth, I was determined to regain my strength and get off of the Bi-Pap machine. I did regain some strength but was never able to rebuild my pulmonary functions which are now 26% of normal. The disease is still slowly progressing. I

9、have trouble keeping on weight. I have been told that I should not have gotten pregnant. Haley is what my life is all about. She keeps me going and makes me smile on those days when life seems so unfair.From: 第85页/共121页871/120,000了了解解第86页/共121页88我国部分地区开展我国部分地区开展我国部分地区开展我国部分地区开展第87页/共121页89nMedium-chain acyl-CoA dehydrogenasenPropionic acidemia (Propionyl-CoA carboxylase)我国部分地区开展我国部分地区开展第88页/共121页90nMethylmalonic Acidemia (methylmalonyl-CoA mutase) nVery lon