醫(yī)學(xué)遺傳學(xué)基礎(chǔ)課件模板-037(共39)

1、醫(yī)學(xué)遺傳學(xué)基礎(chǔ) 課件模板-37,醫(yī)學(xué)遺傳學(xué)基礎(chǔ)：E,E：,ecogenetics生態(tài)遺傳學(xué)115Edwards formula Edward公式89Edwards syndrome Edward綜合征，18在體型24electroporotion電穿孔168elliptocytosis橢圓形細(xì)胞增多癥70empiric risk rate經(jīng)驗風(fēng)險率151endonuclease, restriction限制性內(nèi)切酶156endoreduplication核內(nèi)復(fù)制13enhancer增強(qiáng)子32enzyme transplantation酶移植141enzymopathy酶病2，75epileps

2、y癲癇153equilibrium depletion平衡消除法143eugenics, preventive預(yù)防性優(yōu)生學(xué)137eugenics優(yōu)生學(xué)2，137negative負(fù)優(yōu)生學(xué)137positive正優(yōu)生學(xué)137pregressive演進(jìn)性優(yōu)生學(xué)137euthenics優(yōu)境學(xué)137exon外顯子32exon trapping外顯子捕獲3eapressivity表現(xiàn)度51。,醫(yī)學(xué)遺傳學(xué)基礎(chǔ)：F,F：,facilited diffusion易化擴(kuò)散71familial polyposis coli家族性多發(fā)性息肉118carcioma家族性癌117disease家族性疾病8Fanconi

3、anemia Fanconi貧血，先天性全血細(xì)胞減少癥119fertility生育率94fetoscope胎（兒）鏡131finger tip patterns指紋類型134FISH熒光原位雜交106fitness適合度94flanking sequence側(cè)翼順序2fluorenscence in situ hybridization熒光原位雜交1065fluorocytosine5氟胞嘧啶1725fluorouracil5氟尿嘧啶172form fruste頓挫型52forward mutation正向突變93founder effer建立者效應(yīng)101fragile site脆性部位29，

4、123fragile X syndrome脆性X綜合征29full mutation全突變30functional cloning功能克隆108furrow溝134fusion gene融合基因64。,醫(yī)學(xué)遺傳學(xué)基礎(chǔ)：G,G：,galactokinase半乳糖激酶77galactosemia半乳糖血癥76galactose-phosphate uridyl transferase半乳糖1磷酸尿苷轉(zhuǎn)移酶76G6PD deficency葡糖6磷酸脫氫酶缺乏癥112GC box GC框（盒）32gene dosage effect基因劑量效應(yīng)76gene基因71therapy基因療法167expre

5、ssion基因表達(dá)36cluster基因簇41cloning基因克隆108frequency基因頻率91transfer基因轉(zhuǎn)移168flow基因流102fusion融合基因64diagnosis基因診斷3，130，155location基因定位103map基因圖103family基因家族41control控制基因31discontinuous不連續(xù)基因32enhancer增強(qiáng)基因32，51interrupted不連續(xù)基因32minor微效基因87modiffier修飾基因51pool基因庫91reduced減弱基因51regulator調(diào)節(jié)基因31ribosomal RNA核糖體RNA基因3

6、1structural結(jié)構(gòu)基因31geneticcounseling遺傳咨詢145engineering基因工程2load遺傳負(fù)荷96drift遺傳漂交101mapping遺傳制圖103episemiology遺傳流行病學(xué)1，91drift,random隨機(jī)遺傳漂交101disease遺傳病7imprinting遺傳印記59toxicology遺傳毒理學(xué)1susceptibility遺傳易感性47polymorphism遺傳多態(tài)性（現(xiàn)象）80genetics of behavior行為遺傳學(xué)2gene,transfer RNA轉(zhuǎn)動RNA基因31genic disease基因病9genome基因

7、組40genomic imprinting基因組印記59genomic probe基因組探針155genotype基因型，遺傳型49gneotype frequency基因型頻率91germ cell gene therapy生殖細(xì)胞基因治療167glucose-6-phosphatase葡糖6磷酸酶71glucose-6-phosphate dehydrogenase葡糖6磷酸脫氫酶112glycogen storage disease糖原貯積病77glcophorin血型糖蛋白70gout痛風(fēng)79guanine鳥嘌呤34。,醫(yī)學(xué)遺傳學(xué)基礎(chǔ)：H,H：,hallical area拇指球部135

8、haptoglobin結(jié)合珠蛋白80Hardy-Weinbery law遺傳平衡定律92heart defcet,congnital先天性心臟缺損86Hb Lepore血紅蛋白Lepore34Hb M disease血紅蛋白M病32hemizyote半合子53Heinzs body變性珠蛋白小體62，113hemoglobinpathy血紅蛋白病39hemophilia A甲型血友病57，72B乙型血友病73C丙型血友病73hematochromatosis血色病8，55hereditary diease遺傳性疾病，遺傳病7persistance of fetal hemoglobin遺傳性胎

9、兒血紅蛋白持續(xù)增高癥66heritability遺傳率（度）85heterogeneity遺傳異質(zhì)性57heterogenuous nucleaar RNA核內(nèi)異質(zhì)RNA36heteromorphism異態(tài)性20，80heterozygote雜合子49high resolution banding高分辯顯帶染色體13highly repetitive sequence高度重復(fù)順序41HLA人類白細(xì)胞抗原55holandric inheritance限雄遺傳55homgeneously staining region均染區(qū)125homologous recombination同源重組118hom

10、ozygote純合子49horizontal transmission水平傳遞8HUGO人類基因組（國際）組織109human genetics人類遺傳學(xué)1cytogenetics人類細(xì)胞遺傳學(xué)1genomw Mapping人類基因組制圖3，103Genome organization人類基因組（國際）組織109genome project人類基因計劃3，109genetic diversity Project人類遺傳多樣性計劃109genome mapping人類基因組制圖103biochemical genetics人類生化遺傳學(xué)1leucocyte antigen人類白細(xì)胞抗原6，51H

11、untingtons chorea慢性進(jìn)行性舞蹈病51，108，148hybrid cell雜種細(xì)胞104hydrometrocelops子宮陰道積水56hyperaneuploid高異倍體121hypercholesterolemia, familial家簇性高膽固醇血癥74hyperdiploid超二倍體121hyperphenylalaninemia高苯丙氨酸血癥78hypertension高血壓病87hypervariable region高變區(qū)166hypodiploid亞二倍體121hypogammaglobulinemia低丙球蛋白血癥68hypoxanthine-guanine

12、-phosphoribosyl transferase次黃嘌呤鳥嘌呤磷酸核糖轉(zhuǎn)移酶79。,醫(yī)學(xué)遺傳學(xué)基礎(chǔ)：I,I：,idiogram組型，模式圖10idiosyncracy特應(yīng)性111immune surveillance免疫監(jiān)視120immunodeficiency免疫缺陷病67immunogenetics免疫遺傳學(xué)1in situ hybridization,fluorescence熒光原位雜交106in situ hybridization原位雜交105inborn error of metabolism先天性代謝病2inbreeding coefficinet近婚系數(shù)97inbreeding近親結(jié)婚97incomplete dominace不完全顯性50inherited disease遺傳病7insertion插入17insulin胰島素32integrin整合素126interchromosomal translocation染色體間易位16intrachromosomal translocation染色體內(nèi)易位16interstitial deletion中間缺失15intervening sequence插入順序32intron內(nèi)含子32inversion倒位16irregular domiannce不規(guī)則顯性55IS