医学遗传学英译汉

医学遗传学英译绪论遗传病geneticdisease医学遗传学medicalgenetics人类遗传学humangenetics遗传医学geneticmedicine5.人类朊粒蛋白疾病humanpriondiseases临床遗传学clinicalgenetics体细胞遗传病somaticcellgeneticdisorder再发风险率recurrencerisk第一章后基因组计划post-genomeera2.人类基因组genome3.外显子exon内含子intron断裂基因splitgene简单序列DNAsimple-sequenceDNA中度重复DNAintermediaterepeatDNA自我复制self-replication转录transcription翻译translation第二章基因突变genemutation自发突变spontaneousmutation诱发突变inducedmutation诱变剂mutagen羟胺hydroxylamine,HA静态突变staticmutation点突变pointmutation碱基替换basesubstitution转换transition颠换transvertion同义突变samesensemutation无义突变no-sensemutation错义突变missensemutation终止密码突变terminatorcodonmutation移码突变frame-shiftmutation舞蹈病Huntington光复活修复photoreactivationrepair切除修复excisionrepair暗修复darkrepair重组修复recombinationrepair第三章1.原发性损害primaryabnormalities继发性损害secondaryabnormalities组织特异性蛋白tissue-specificprotein分子病moleculardisease第四章单基因遗传病single-genedisorder,monogenticdisorder系谱分析法pedigreeanalysis先证者proband表现度expressivity外显率penetrance拟表型phenolcopy基因多效性geneticpleiotropy遗传异质性geneticheterogeneity遗传早显anticipation延迟显性delayeddominance从性遗传sex-conditionedinheritance限性遗传sex-limitedinheritance13.不完全显性遗传incompletedominance14.共显性codominance15.遗传印迹geneticimprinting第五章微效基因minorgene多基因遗传inheritance质量性状qualitativecharacter数量性状quantitativecharacter易患性liability易感性susceptibility发病阈值threshold遗传度heritability第六章基因流geneflow突变负荷mutationload分离负荷segregationload第七章母系遗传maternalinheritance同质性homoplasmy异质性heteroplasmy第八章染色体chromosome染色质chromatin异染色质heterochromatin常染色质euchromatin5.核小体亚单位nucleosome染色体组chromosomeset基因组genome核型karyotype第九章染色体畸变chromosomeaberration三倍体triploid四倍体tetraploid单体型monosomy第十章分子病moleculardisease先天性代谢缺陷inbornerrorsofmetabolism血红蛋白病Hbdisease4.镰状细胞贫血病sicklecellanemia血红蛋白M病HemoglobinMdisease血浆蛋白病Plasmaproteindisease受体病receptordisease8.苯丙酮尿症PKU白化病albinism第十一章糖尿病diabetesmellitus第十二章第十三章染色体病chromosomaldisorder常染色体病autosomaldisorder18三体综合征Edwardsyndrome13三体综合征Patausyndrome微小缺失综合征smalldeletionsyndrome第十四章免疫缺陷immunodeficiency孟买型Bombayphenotype单倍型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标志染色体markerchromosome癌基因oncogene原癌基因proto-oncogene.长末端重复序列longterminalrepeatsequence，LTR7.肿瘤抑制基因recessiveoncogene8.二次突变假说（two-hithypothesis第十七章