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(yè)/共121頁(yè)3第2頁(yè)/共121頁(yè)4第3頁(yè)/共121頁(yè)5掌掌握握第4頁(yè)/共121頁(yè)6質(zhì)質(zhì)量量蛋白蛋白質(zhì)質(zhì)DNARNAtRNA mRNA疾病疾病第5頁(yè)/共121頁(yè)7掌掌握握第6頁(yè)/共121頁(yè)8第7頁(yè)/共121頁(yè)9280,000,000 Hb/cell第8頁(yè)/共121頁(yè)10第9頁(yè)/共121頁(yè)11F8HisE7His第10頁(yè)/共121頁(yè)12第11頁(yè)/共121頁(yè)13基因基因簇簇熟熟悉悉第12頁(yè)/共121頁(yè)14Hb A (22)Hb F (22)Hb F (22 , 1%)Hb A2 (22 , 2%)熟熟悉悉第13頁(yè)/共121頁(yè)15LCR了了解解第14

2、頁(yè)/共121頁(yè)16掌掌握握第15頁(yè)/共121頁(yè)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(yè)/共121頁(yè)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(yè)/共121頁(yè)19掌掌握握第18頁(yè)/共121頁(yè)20第19頁(yè)/共121頁(yè)21第20頁(yè)/共121頁(yè)22熟熟悉悉第21頁(yè)/共121頁(yè)23第22頁(yè)/共121頁(yè)24第23頁(yè)/共121頁(yè)25掌掌握握第24頁(yè)/共121頁(yè)26第25頁(yè)/共12

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

4、第40頁(yè)/共121頁(yè)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(yè)/共121頁(yè)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(yè)/共121頁(yè)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(yè)/共121頁(yè)45第44頁(yè)/共121頁(yè)46第45頁(yè)/共121頁(yè)47第46頁(yè)/共121頁(yè)48第47頁(yè)/共121頁(yè)49第48頁(yè)/共121頁(yè)50第49頁(yè)/共121頁(yè)51掌掌握握第50頁(yè)/共121頁(yè)52熟熟悉悉第51頁(yè)/共121頁(yè)53第52頁(yè)/共

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

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