华南农业大学遗传学Chap 6 Variations of Genetic Information.pptVIP

突变的有害性与有利性多数事例表明，突变大多数是有害的。这是因为生物经长期的自然选择，产生了与外界环境相同协调的关系，这种关系一旦因突变而改变便可能干扰内部的生理生化过程，所以大部分突变对生物体是不利的。少数的突变能促进和加强某些生命活力，所以是有利的突变。例如作物抗病性，微生物的抗药性等，这些突变为生物进化提供了最有利的条件。抗药性突变与药物：微生物产生抗药性突变与药物的存在与否没有关系。药物的存在只是起筛选作用。请举例。（四）基因突变的分子机制1.碱基替换(nucleotidesubstitution)：（1）类型：转换-transition:嘌呤取代嘌呤；嘧啶取代嘧啶颠换-transversion:嘌呤与嘧啶间互换（2）遗传效应：错义突变Achangeofonenucleotideofatripletwithinaprotein–codingportionofagenemayresultinthecreationofanewtripletthatcodesforadifferentaminoacidintheproteinproduct.Ifthisoccurs,themutationisknownasamissensemutation.同义突变Ifthepointmutationaltersacodonbutdoesnotresultinachangeintheaminoacidatthatpositionintheprotein,itcanbeconsideredasilent(Samesense)mutation.镰刀型细胞贫血症sickle-cellanemiaThegenedefectisaknownmutationofasinglenucleotide(AtoT)oftheβ-globingene(theβchainofthehemoglobin血红蛋白),whichresultsinglutamicacidbeingsubstitutedbyvaline.Apersonwhoreceivesthedefectivegenefrombothfatherandmotherdevelopsthedisease;apersonwhoreceivesonedefectiveandonehealthyalleleremainshealthy,butcanpassonthediseaseandisknownasacarrierorheterozygote.正常人的红细胞是圆饼状的，镰刀型细胞贫血症患者的红细胞却呈弯曲的镰刀状。这样的红细胞容易破裂，使人患溶血性贫血，严重时会导致死亡。无义突变（nonssensemutation）：Anotherpossibleoutcomeisthatthetripletwillbechangedintoastopcodon,resultingintheterminationoftranslationoftheprotein.Thisisknownasanonsensemutation.非编码区的碱基替换影响基因表达效率。2.移码突变(frameshiftmutation)Thelossoradditionofasinglenucleotidecausesallofthesubsequentthree–lettercodonstobechanged.Thesearecalledframeshiftmutationsbecausetheframeoftripletreadingduringtranslationisaltered.Aframeshiftmutationwilloccurwhenanynumberofbasesareaddedordeleted,exceptmultiplesofthree,whichwouldreestablishtheinitialframeofreading.Obviously,theresultsofframeshiftmutationscanbeverysevere,