<?xml version="1.0" encoding="UTF-8"?><rss version="2.0"
	xmlns:content="http://purl.org/rss/1.0/modules/content/"
	xmlns:wfw="http://wellformedweb.org/CommentAPI/"
	xmlns:dc="http://purl.org/dc/elements/1.1/"
	xmlns:atom="http://www.w3.org/2005/Atom"
	xmlns:sy="http://purl.org/rss/1.0/modules/syndication/"
	xmlns:slash="http://purl.org/rss/1.0/modules/slash/"
	>

<channel>
	<title>生信菜鸟团 &#187; 点突变</title>
	<atom:link href="http://www.bio-info-trainee.com/tag/%e7%82%b9%e7%aa%81%e5%8f%98/feed" rel="self" type="application/rss+xml" />
	<link>http://www.bio-info-trainee.com</link>
	<description>欢迎去论坛biotrainee.com留言参与讨论，或者关注同名微信公众号biotrainee</description>
	<lastBuildDate>Sat, 28 Jun 2025 14:30:13 +0000</lastBuildDate>
	<language>zh-CN</language>
	<sy:updatePeriod>hourly</sy:updatePeriod>
	<sy:updateFrequency>1</sy:updateFrequency>
	<generator>https://wordpress.org/?v=4.1.33</generator>
	<item>
		<title>点突变详解</title>
		<link>http://www.bio-info-trainee.com/1176.html</link>
		<comments>http://www.bio-info-trainee.com/1176.html#comments</comments>
		<pubDate>Thu, 05 Nov 2015 13:51:43 +0000</pubDate>
		<dc:creator><![CDATA[ulwvfje]]></dc:creator>
				<category><![CDATA[未分类]]></category>
		<category><![CDATA[mutation]]></category>
		<category><![CDATA[点突变]]></category>
		<category><![CDATA[转换]]></category>

		<guid isPermaLink="false">http://www.bio-info-trainee.com/?p=1176</guid>
		<description><![CDATA[DNA分子中某一个碱基为另一种碱基置换，导致DNA碱基序列异常，是基因突变的一种 &#8230; <a href="http://www.bio-info-trainee.com/1176.html">Continue reading <span class="meta-nav">&#8594;</span></a>]]></description>
				<content:encoded><![CDATA[<p>DNA分子中某一个碱基为另一种碱基置换，导致DNA碱基序列异常，是基因突变的一种类型。可分为转换和颠换两类。<strong>转换</strong>(transitions)<strong>是同类碱基的置换（</strong><strong>AT→GC</strong><strong>及</strong><strong>GC→AT</strong><strong>）</strong><strong>,</strong><strong>颠换</strong>(transversions) <strong>是不同类碱基的置换（</strong><strong>AT→TA</strong><strong>或</strong><strong>CG,GC→CG</strong><strong>或</strong><strong>TA</strong><strong>。</strong></p>
<p><strong>DNA </strong>substitution mutations are of two types. <strong>Transitions </strong>are interchanges of two-ring <strong>purines </strong>(<strong>A</strong>  <strong>G</strong>) or of one-ring <strong>pyrimidines </strong>(<strong>C</strong>  <strong>T</strong>): they therefore involve bases of similar shape. <strong>Transversions </strong>are interchanges of <strong>purine for pyrimidine bases</strong>, which therefore involve exchange of <strong>one-ring</strong> and <strong>two-ring</strong> structures.</p>
<p>我们在分析driver mutation的时候会区分各种点突变:</p>
<ul>
<li>1. CpG transitions</li>
<li>2. CpG transversions</li>
<li>3. C:G transitions</li>
<li>4. C:G transversions</li>
<li>5. A:T transitions</li>
<li>6. A:T transversions</li>
</ul>
<p>那么，我们有64种密码子，每种密码子都会有9种突变可能，我们如何得到一个所有的突变可能的分类并且打分表格呢？</p>
<p><span style="color: #ff6600;">类似于下面这样的表格：共576行！！！</span></p>
<p><span style="color: #ff00ff;">head category.acgt</span><br />
AAA&gt;AAT 2 A T 6<br />
AAA&gt;AAC 2 A C 6<br />
AAA&gt;AAG 2 A G 5<br />
AAA&gt;ATA 1 A T 6<br />
AAA&gt;ACA 1 A C 6<br />
AAA&gt;AGA 1 A G 5<br />
AAA&gt;TAA 0 A T 6<br />
AAA&gt;CAA 0 A C 6<br />
AAA&gt;GAA 0 A G 5<br />
AAT&gt;AAA 2 T A 6</p>
<p><span style="color: #ff00ff;">tail category.acgt</span><br />
GGC&gt;GGG 2 C G 2<br />
GGG&gt;AGG 0 G A 3<br />
GGG&gt;TGG 0 G T 4<br />
GGG&gt;CGG 0 G C 4<br />
GGG&gt;GAG 1 G A 3<br />
GGG&gt;GTG 1 G T 4<br />
GGG&gt;GCG 1 G C 4<br />
GGG&gt;GGA 2 G A 3<br />
GGG&gt;GGT 2 G T 4<br />
GGG&gt;GGC 2 G C 4</p>
<p>我本来以为这是一件很简单的事情，写起来，才发现好麻烦</p>
<p><a href="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/1Capture.png"><img class="alignnone size-full wp-image-1177" src="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/1Capture.png" alt="1Capture" width="339" height="293" /></a></p>
<p>&nbsp;</p>
<p>里面用到的一个函数如下：就是判断突变属于上述六种的哪一种！</p>
<p><a href="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/2.png"><img class="alignnone size-full wp-image-1178" src="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/2.png" alt="2" width="876" height="564" /></a></p>
<p>参考：https://www.mun.ca/biology/scarr/Transitions_vs_Transversions.html</p>
<p>https://en.wikipedia.org/wiki/Transversion</p>
<p>http://www.uvm.edu/~cgep/Education/Mutations.html</p>
<p>点<a href="http://www.plob.org/tag/%e7%aa%81%e5%8f%98">突变</a>，也称作<strong>单碱基替换</strong>（single base substitution），指由单个碱基改变发生的<a href="http://www.plob.org/tag/%e7%aa%81%e5%8f%98">突变</a>。</p>
<p>可以分为<a href="http://www.plob.org/tag/%e8%bd%ac%e6%8d%a2">转换</a>（transitions）和<a href="http://www.plob.org/tag/%e9%a2%a0%e6%8d%a2">颠换</a>（transversions）两类。</p>
<p><a href="http://www.plob.org/tag/%e8%bd%ac%e6%8d%a2">转换</a>：嘌呤和嘌呤之间的替换，或嘧啶和嘧啶之间的替换。</p>
<p><a href="http://www.plob.org/tag/%e9%a2%a0%e6%8d%a2">颠换</a>：嘌呤和嘧啶之间的替换。</p>
<p>方便理解下面再附上一张示意图，如下：</p>
<p>&nbsp;</p>
<p><a href="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/Transitions_vs_Transversions.gif"><img class="alignnone  wp-image-1179" src="http://www.bio-info-trainee.com/wp-content/uploads/2015/11/Transitions_vs_Transversions.gif" alt="Transitions_vs_Transversions" width="561" height="599" /></a></p>
<p>&nbsp;</p>
]]></content:encoded>
			<wfw:commentRss>http://www.bio-info-trainee.com/1176.html/feed</wfw:commentRss>
		<slash:comments>0</slash:comments>
		</item>
	</channel>
</rss>
