分子生物学课件-2.pptVIP

4.基因突变的后果 生物功能的丧失； 引起多种酶缺失； 产生功能获得性显性表现型； 体细胞的突变频率是10-7——10-5。 * The common forms of guanine and thymine are the keto forms, which can rearrange to the enol forms. * There are many different causes of mutations. Spontaneous mutations (those that result from no external cause) can occur simply by rearrangement of bonds and by the repositioning of hydrogens in the purine and pyrimidine bases. The common forms of adenine and cytosine are the amino forms, which can rearrange to the imino forms. The repositioning of hydrogens changes their base pairing, hydrogen bonding chemistry. * This figure illustrates how a conversion from the amino to the imino form of cytosine changes the locations of hydrogen donor and acceptor groups, such that the imino form of cytosine base pairs with adenine instead of guanine. As shown in the next figure, this will ultimately lead to a transition mutation. As for the other tautomers, the imino form of adenine looks sort of like a guanine and should be able to form two hydrogen bonds with cytosine; the enol form of guanine looks like an adenine and should be able to form three hydrogen bonds with thymine; and the enol form of thymine looks like a cytosine and should be able to form three hydrogen bonds with guanine. In all cases, the wrong nucleotide will be inserted into the growing DNA chain. * The deoxyribose ring is also susceptible to damage, here being shown being cleaved by an oxygen free radical. This would break the phosphodiester backbone of DNA. * 糖苷水解酶：特异性水解受损核苷酸上的Ｎ－ｂｅｔａ－糖苷键，使碱基脱落，形成去嘌呤或去嘧啶位点。有ＡＰ核酸内切酶将该位点的核苷酸切除。有ＤＮＡ聚合酶修复。 * This slide illustrates the four basic types of base pair mutations. Two of them result in the conversion of one base pair to another (base pair substitution). The others result in removal (deletion) or addition (insertion) of one or more base pairs. (Note that a transition mutation results when a pyrimidine on one strand is converted to another pyrimidine on the same strand. The complementary stran