医学遗传学词汇glossary

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1、Acceptorsplicesite？？Theboundarybetweenthe3’endofanintronandthe5’endofthefollowingexon.Alsocalled3’splicesite.剪接受体位点：内含子3′末端与下一个外显子5′端之间的交界处。又称3′剪接位点。Acrocentric？？Atypeofchromosomewiththecentromerenearoneend.Thehumanacrocentricchromosomes(13,14,15,21,and22)havesatellitedshortarmsth

2、atcarrygenesforribosomalRNA.近端着丝粒（染色体）：着丝粒位于接近染色体臂端部的染色体。人类近端着丝粒染色体（第13、14、15、21和22号）短臂的随体携带有编码核糖体RNA的基因。Adverseselection？？Atermusedintheinsuranceindustrytodescribethesituationinwhichindividualswithprivateknowledgeofhavinganincreasedriskforillness,disability,ordeathbuydisproportio

3、natelymorecoveragethanthoseatalowerrisk.Asaresult,insurancepremiums,whicharebasedonaveragingriskacrossthepopulation,areinadequatetocoverfutureclaims.逆向选择：保险业的专有名词，指投保人知晓其有较高的患病、残疾或死亡风险，但隐瞒真相购买相关保险。因此，根据人群平均风险制定的保险费不足以支付相关费用。Affectedpedigreemembermethod？？Amodel-freemethodoflinkagea

4、nalysisthatsystematicallymeasureswhetherrelativesaffectedwithadiseaseshareallelesatalocusmorefrequentlythanwouldbepredictedbychancealonefromtheirfamilialrelationship.Iftherelativesaresibs,itisreferredtoastheaffectedsibpairmethodoflinkageanalysis.患病家系成员法：一种不用模型的连锁分析方法。系统性地分析同患疾病的家系

5、成员共享同一基因座等位基因的频率是否高于随机计算值。若为胞亲，则称为连锁分析的患病胞对法。Allele？？OneofthealternativeversionsofageneorDNAsequenceatagivenlocus.等位基因：在一对同源染色体的同一基因座上的两个不同形式的基因。Allele-specificoligonucleotide(ASO)？？AnoligonucleotideprobesynthesizedtomatchaparticularDNAsequencepreciselyandallowthediscriminationofa

6、llelesthatdifferbyonlyasinglebase.等位基因特异的寡核苷酸（ASO）：与基因点突变热点区互补的人工合成的寡核苷酸序列。Allelicexclusion？？Inimmunogenetics,theobservationthatonlyoneofthepairofparentalallelesforeachHchainandLchainofanimmunoglobulinmoleculeisexpressedwithinasinglecell.等位基因排斥：免疫球蛋白的杂合子只表达一对等位基因中的一个的现象。Allelichet

7、erogeneity？？Inapopulation,theremaybeanumberofdifferentmutantallelesatasinglelocus.Inanindividual,thesameorsimilarphenotypesmaybecausedbydifferentmutantallelesratherthanbyidenticalallelesatthelocus.等位基因异质性：一个基因有多种突变，产生多种异常表型的现象。个体相同或相似的表型，可能是由不同的突变等位基因引起，而非同一基因座的相同等位基因。Allogenic？？I

8、ntransplantation,denotesindividua