分子病與遺傳性酶病

1、會(huì)計(jì)學(xué)1分子病與遺傳性酶病分子病與遺傳性酶病2第1頁/共121頁3第2頁/共121頁4第3頁/共121頁5掌掌握握第4頁/共121頁6質(zhì)質(zhì)量量蛋白蛋白質(zhì)質(zhì)DNARNAtRNA mRNA疾病疾病第5頁/共121頁7掌掌握握第6頁/共121頁8第7頁/共121頁9280,000,000 Hb/cell第8頁/共121頁10第9頁/共121頁11F8HisE7His第10頁/共121頁12第11頁/共121頁13基因基因簇簇熟熟悉悉第12頁/共121頁14Hb A (22)Hb F (22)Hb F (22 , 1%)Hb A2 (22 , 2%)熟熟悉悉第13頁/共121頁15LCR了了解解第14

2、頁/共121頁16掌掌握握第15頁/共121頁17功能喪功能喪失失疾病嚴(yán)重疾病嚴(yán)重程度程度質(zhì)質(zhì)量量掌掌握握第16頁/共121頁18-globin-globin-地中海貧血地中海貧血-globin-globin-globin-globin正常正常-地中海貧血地中海貧血過量的珠過量的珠蛋白在胞蛋白在胞內(nèi)堆積內(nèi)堆積損害細(xì)損害細(xì)胞膜胞膜破壞破壞紅細(xì)紅細(xì)胞胞 貧血貧血掌掌握握第17頁/共121頁19掌掌握握第18頁/共121頁20第19頁/共121頁21第20頁/共121頁22熟熟悉悉第21頁/共121頁23第22頁/共121頁24第23頁/共121頁25掌掌握握第24頁/共121頁26第25頁/共12

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

4、第40頁/共121頁42鐮刀形血紅蛋白纖維鐮刀形血紅蛋白纖維Fibres of Sickle Hemoglobin第41頁/共121頁43鐮刀形血紅蛋白纖維鐮刀形血紅蛋白纖維Fibres of Sickle Hemoglobin第42頁/共121頁44鐮刀形血紅蛋白纖維鐮刀形血紅蛋白纖維Fibres of Sickle Hemoglobin 橫截面橫截面第43頁/共121頁45第44頁/共121頁46第45頁/共121頁47第46頁/共121頁48第47頁/共121頁49第48頁/共121頁50第49頁/共121頁51掌掌握握第50頁/共121頁52熟熟悉悉第51頁/共121頁53第52頁/共

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

6、77第76頁/共121頁78第77頁/共121頁79了了解解第78頁/共121頁80第79頁/共121頁81第80頁/共121頁82、燈檢查可見角膜混濁。第81頁/共121頁83第82頁/共121頁84n了了解解第83頁/共121頁85第84頁/共121頁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頁/共121頁871/120,000了了解解第86頁/共121頁88我國部分地區(qū)開展我國部分地區(qū)開展我國部分地區(qū)開展我國部分地區(qū)開展第87頁/共121頁89nMedium-chain acyl-CoA dehydrogenasenPropionic acidemia (Propionyl-CoA carboxylase)我國部分地區(qū)開展我國部分地區(qū)開展第88頁/共121頁90nMethylmalonic Acidemia (methylmalonyl-CoA mutase) nVery lon