醫(yī)學(xué)遺傳學(xué)英譯漢

醫(yī)學(xué)遺傳學(xué)英譯緒論遺傳病geneticdisease醫(yī)學(xué)遺傳學(xué)medicalgenetics人類遺傳學(xué)humangenetics遺傳醫(yī)學(xué)geneticmedicine5.人類朊粒蛋白疾病humanpriondiseases臨床遺傳學(xué)clinicalgenetics體細(xì)胞遺傳病somaticcellgeneticdisorder再發(fā)風(fēng)險(xiǎn)率recurrencerisk第一章后基因組計(jì)劃post-genomeera2.人類基因組genome3.外顯子exon內(nèi)含子intron斷裂基因splitgene簡(jiǎn)單序列DNAsimple-sequenceDNA中度重復(fù)DNAintermediaterepeatDNA自我復(fù)制self-replication轉(zhuǎn)錄transcription翻譯translation第二章基因突變genemutation自發(fā)突變spontaneousmutation誘發(fā)突變inducedmutation誘變劑mutagen羥胺hydroxylamine,HA靜態(tài)突變staticmutation點(diǎn)突變pointmutation堿基替換basesubstitution轉(zhuǎn)換transition顛換transvertion同義突變samesensemutation無(wú)義突變no-sensemutation錯(cuò)義突變missensemutation終止密碼突變terminatorcodonmutation移碼突變frame-shiftmutation舞蹈病Huntington光復(fù)活修復(fù)photoreactivationrepair切除修復(fù)excisionrepair暗修復(fù)darkrepair重組修復(fù)recombinationrepair第三章1.原發(fā)性損害primaryabnormalities繼發(fā)性損害secondaryabnormalities組織特異性蛋白tissue-specificprotein分子病moleculardisease第四章單基因遺傳病single-genedisorder,monogenticdisorder系譜分析法pedigreeanalysis先證者proband表現(xiàn)度expressivity外顯率penetrance擬表型phenolcopy基因多效性geneticpleiotropy遺傳異質(zhì)性geneticheterogeneity遺傳早顯anticipation延遲顯性delayeddominance從性遺傳sex-conditionedinheritance限性遺傳sex-limitedinheritance13.不完全顯性遺傳incompletedominance14.共顯性codominance15.遺傳印跡geneticimprinting第五章微效基因minorgene多基因遺傳inheritance質(zhì)量性狀qualitativecharacter數(shù)量性狀quantitativecharacter易患性liability易感性susceptibility發(fā)病閾值threshold遺傳度heritability第六章基因流geneflow突變負(fù)荷mutationload分離負(fù)荷segregationload第七章母系遺傳maternalinheritance同質(zhì)性homoplasmy異質(zhì)性heteroplasmy第八章染色體chromosome染色質(zhì)chromatin異染色質(zhì)heterochromatin常染色質(zhì)euchromatin5.核小體亞單位nucleosome染色體組chromosomeset基因組genome核型karyotype第九章染色體畸變chromosomeaberration三倍體triploid四倍體tetraploid單體型monosomy第十章分子病moleculardisease先天性代謝缺陷inbornerrorsofmetabolism血紅蛋白病Hbdisease4.鐮狀細(xì)胞貧血病sicklecellanemia血紅蛋白M病HemoglobinMdisease血漿蛋白病Plasmaproteindisease受體病receptordisease8.苯丙酮尿癥PKU白化病albinism第十一章糖尿病diabetesmellitus第十二章第十三章染色體病chromosomaldisorder常染色體病autosomaldisorder18三體綜合征Edwardsyndrome13三體綜合征Patausyndrome微小缺失綜合征smalldeletionsyndrome第十四章免疫缺陷immunodeficiency孟買型Bombayphenotype單倍型haplotype4.自身免疫性疾病autoimmunedisease第十五章出生缺陷birthdefect先天畸形congenitalmalformationI、.七第十六章1.干系stemline旁系sideline標(biāo)志染色體markerchromosome癌基因oncogene原癌基因proto-oncogene.長(zhǎng)末端重復(fù)序列l(wèi)ongterminalrepeatsequence，LTR7.腫瘤抑制基因recessiveoncogene8.二次突變假說(shuō)（two-hithypothesis第十七章