遺傳學(xué)：第9章染色體畸變
《遺傳學(xué)：第9章染色體畸變》由會員分享，可在線閱讀，更多相關(guān)《遺傳學(xué)：第9章染色體畸變（48頁珍藏版）》請在裝配圖網(wǎng)上搜索。
1、GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNC
2、ZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENE
3、TICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS第九章 染色體畸變Chromosome AberrationGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GE
4、NETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCG
5、ENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS基本概念染色體畸變指染色體的結(jié)構(gòu)或數(shù)目發(fā)生了異常的變化。染色體畸變可能是自發(fā)的，也可通過化學(xué)物質(zhì)或放射線處理而誘發(fā)；染色體結(jié)構(gòu)變異包括缺失、重復(fù)、倒位、易位四類；一對同源染色體存在相同的結(jié)構(gòu)改變稱結(jié)構(gòu)純合體，若僅其中一條染色體結(jié)構(gòu)發(fā)生改變叫結(jié)構(gòu)雜合體；染色體數(shù)的改變分為兩類，一類是整倍體，另一類是非
6、整倍體；整倍體是增加或減少整套的染色體，非整倍體是增加或減少一條或幾條染色體；GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZ
7、HJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS
8、ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.1 染色體結(jié)構(gòu)變異染色體結(jié)構(gòu)變異可分為四種類型。缺失(deletion)：失去了部分染色體片段；重復(fù)(duplication)：增加部分染色體片段；倒位(inversion)：染色體片段作180的顛倒再重接在染色體上；易位(translocation)：兩條非同源染色體之間發(fā)生部分片段的交換。一對同源染色體其中一條是正常的而另一條發(fā)生了結(jié)構(gòu)變異，含有這類染色體的個體或細(xì)胞稱為結(jié)構(gòu)雜合體(stru
9、ctural heterozygote)。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENET
10、ICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJN
11、CZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.1.1 缺失(deletion) 6.1.1.1 缺失的類型 1)、末端缺失(terminal deletion) 末端發(fā)生缺失。由于丟失了端粒，故一般很不穩(wěn)定。 2)、中間缺失(interstitial deletion) 染色體中部缺失了一個片段。這種缺失較為穩(wěn)定，故較常見。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETI
12、CS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENE
13、TICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSABCFDEGHNormalAFD
14、EGHBCFDEGHInterstitialTerminalGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENE
15、TICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENE
16、TICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.1.1.2 缺失的細(xì)胞學(xué)和遺傳學(xué)效應(yīng)1)、在減數(shù)分裂同源染色體配對時，缺失雜合體出現(xiàn)特征性的環(huán)狀結(jié)構(gòu)缺失環(huán)(deletion loop)。2)、致死或出現(xiàn)異常。如人類的貓叫綜合癥(cat cry syndrome)是由于第5號染色體短臂缺失所致。12312377456deletion loopNormal chromotidsDeletion chromotidsGENETICS ZHJNCGENETICS ZH
17、JNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGEN
18、ETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNC
19、ZHJNCZHJNC GENETICSGENETICSGENETICS3)、假顯性(pesudo-dominance) 如果缺失的部分包括某些顯性基因，那么同源染色體上與這一缺失相對位置上的隱性基因就得以表現(xiàn)，這一現(xiàn)象稱為假顯性。如果蠅的缺刻翅遺傳。 +Nw紅眼缺刻翅X+XN白眼正常翅XwY+w紅眼正常+紅眼正常wN白眼缺刻N(yùn)死亡GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJN
20、CZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GEN
21、ETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.2 重復(fù)(duplication)6.2.2.1 重復(fù)的類型1)、順接重復(fù)(tandem duplication) 重復(fù)片段與原有片段毗鄰且
22、方向相同。2)、反接重復(fù)(reverse duplication) 重復(fù)片段與原有片段毗鄰但方向相反。3)、異位重復(fù)(displaced duplication) 重復(fù)片段位于染色體其它位置或其它染色體上。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENE
23、TICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGE
24、NETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSABCFDEGHBCFADEGHBCCBFADEGHBCABCFDEGHBCNormalTandemReverseDisplacedGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNC
25、GENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJN
26、C GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.2.2 重復(fù)的
27、細(xì)胞學(xué)和遺傳學(xué)效應(yīng)1)、染色體重復(fù)與正常染色體聯(lián)會時，在粗線期的染色體上會出現(xiàn)環(huán)狀突起。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZ
28、HJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENE
29、TICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS2)、位置效應(yīng)(position effect) 一個基因隨著染色體畸變而改變它和鄰近基因的位置關(guān)系，從而改變了表型的現(xiàn)象稱位置效應(yīng)。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJN
30、CZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJN
31、C GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS 3)、劑量效應(yīng)(dosage effect) 如在細(xì)胞或個體中既有重復(fù)又有缺失，總的基因組平衡的話，除染色體重排引起的效應(yīng)外，個體表型是
32、正常的。但若總量因重復(fù)而增加，那么某些基因及其產(chǎn)物的劑量也隨之增加，如這些基因或產(chǎn)物十分重要的話必然會引起表型異常。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETI
33、CS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENE
34、TICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.3 倒位(inversion)6.2.2.1 倒位的類型1)、臂內(nèi)倒位(paracentric inversion) 倒位片段不含著絲粒。2)、臂間倒位(pericentric inversion) 倒位片段含著絲粒。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJ
35、NCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZH
36、JNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSABCFDEGAB
37、CFDEGABCFDEGParacentricABCFDEGABCFDEGACBFEDGPericentricGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS
38、ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETIC
39、S ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.3.2 倒位的細(xì)胞學(xué)和遺傳學(xué)效應(yīng)1)、產(chǎn)生倒位環(huán)(inversion loop)。ABCFDEGABCFDEGParacentricADFGADFGBCBCEEPericentricGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNC
40、ZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGEN
41、ETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSSingle inversionMultiple inver
42、sionGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZ
43、HJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC
44、GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS2)、抑制倒位區(qū)內(nèi)的重組，形成假連鎖。不論是臂間倒位還是臂內(nèi)倒位，由于倒位環(huán)內(nèi)非姐妹染色單體間發(fā)生單交換，而交換的產(chǎn)物都帶有缺失或重復(fù)，不能形成有功能的配子，因而好象被抑制了，或相當(dāng)程度地減少雜合子中的重組。這種現(xiàn)象稱為交換抑制因子(crossover repressor,C)。據(jù)Schultz和Redfield(1951)在果蠅中的研究發(fā)現(xiàn)，一對染色體的雜合倒位，能增加同一染色體組中的非倒位片段的交換發(fā)生。這種現(xiàn)象稱為Schultz-Redfield效應(yīng)。3)、倒位
45、雜合體育性降低，表現(xiàn)部分不育。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGEN
46、ETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNC
47、ZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSParacentricGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETI
48、CS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENET
49、ICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSParacentricGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GE
50、NETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENE
51、TICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSPericentricGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCG
52、ENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC
53、 GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.4 易位(tra
54、nslocation)6.2.4.1 易位的類型1)、相互易位(reciprocal translocation) 非同源染色體之間相互置換了一段染色體片段。2)、插入易位(interstitial translocation) 一條染色體片斷插入到非同源染色體區(qū)段之中。GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETIC
55、SGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJN
56、CZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSABCFDEMNQOPAFDEMNQOPBCInterstitial translocationABCFDEMNQOPABCQOPMNFDEReciprocal translocationGENETICS Z
57、HJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENE
58、TICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETI
59、CSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS6.2.4.2 易位的細(xì)胞學(xué)效應(yīng) 相互易位雜合體在Metaphase I 由于同源部分的緊密配對而出現(xiàn)特征性的十字形圖像。 隨著分裂的進(jìn)行，十字形圖像逐漸開放形成一個環(huán)形或雙環(huán)狀的“8”字形。 到Anaphase I ，染色體表現(xiàn)出不同的分離方式：1) 相鄰分離1(adjacent segregation-1)2) 相鄰分離2(adjacent segregation-2)3) 交互分離 (alternate segregation)GENETICS ZHJNCGENETICS ZHJNCGEN
60、ETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSG
61、ENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZ
62、HJNC GENETICSGENETICSGENETICS減數(shù)分裂中期 I 的相互易位雜合體ABCFDEMNQOPFEDABCOQPMN1234GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETI
63、CS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENET
64、ICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS相互易位雜合體在減數(shù)分裂后期 I 的三種分離方式Alternate Adjacent-1Adjacent-21 34 213241342GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC
65、 GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJN
66、CGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICS143212341324Alternate 產(chǎn)生的配子是正常的和平衡易位的，可存活A(yù)djacent-1,2 產(chǎn)生的配子都有缺失和重復(fù)，是不可育的GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNC GENETICS ZHJNCGENETICS ZHJNCGENETICS ZHJNCZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSZHJNCZHJNCZHJNC GENETICSGENETICSGENETICSGEN
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