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单基因遗传病：脊髓性肌萎缩3型

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导读	<P>中文名称：脊髓性肌萎缩3型</P><P>英文名称：Spinal Muscular Atrophy </P><P>OMIM号： 2 </P><P>所属系统：大脑和神经系统</P><P>遗传方式：AR</P><DIV class=hdwiki_tmml...

中文名称：脊髓性肌萎缩3型英文名称：Spinal Muscular Atrophy OMIM号： 2 所属系统：大脑和神经系统遗传方式：AR<DIV class=hdwiki_tmml>疾病简介</DIV>脊髓性（进行性）肌萎缩是一种具有进行性、对称性、以近端为主的弛缓性瘫痪和肌肉萎缩为特征的遗传性下运动神经元疾病。变性限于脊髓前角α运动神经元。特点是进行肌萎缩和肌软弱,通常自手的小肌肉开始,蔓延至整个上肢和下肢,反射消失,感觉障碍不出现。起病隐匿,好发于中年男性。表现为双手活动软弱无力,手的内在肌萎缩,可有“爪形手”、“猿手”畸形。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：SMN1  参考序列：NM_000344 染色体位置：5q12.2-q13.3 </DIV><DIV><TABLE class=table><TBODY><TR><TD> 突变ID</TD><TD> 突变位点</TD><TD> 突变类型</TD><TD>编码区位置 </TD><TD> 野生型</TD><TD>突变型 </TD><TD> 参考文献</TD></TR><TR><TD>1</TD><TD>IVS7+6T-G </TD><TD>S</TD><TD>IVS7 +6 T-G</TD><TD>T</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS6+2T-G </TD><TD>S</TD><TD>IVS6 +2 T-G</TD><TD>T</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS1+1_+2insG </TD><TD>I</TD><TD>IVS1 +1_+2 ins G</TD><TD>GT</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>A2G </TD><TD>M</TD><TD>5</TD><TD>C</TD><TD>G</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>22_23insA </TD><TD>I</TD><TD>22_23</TD><TD>AG</TD><TD>A</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>Q15X </TD><TD>M</TD><TD>43</TD><TD>C</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>D30N </TD><TD>M</TD><TD>88</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>90_91insT </TD><TD>I</TD><TD>90_91</TD><TD>TT</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>9</TD><TD>91_92insT </TD><TD>I</TD><TD>91_92</TD><TD>TC</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>10</TD><TD>D44V </TD><TD>M</TD><TD>131</TD><TD>A</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>11</TD><TD>198_241del17 </TD><TD>D</TD><TD>198_214</TD><TD>AAAAACCACACCTAAAA</TD><TD></TD><TD>[10]</TD></TR><TR><TD>12</TD><TD>208_209ins4 </TD><TD>I</TD><TD>208_209</TD><TD>CC</TD><TD>GTGT</TD><TD>[6]</TD></TR><TR><TD>13</TD><TD>V94G </TD><TD>M</TD><TD>281</TD><TD>T</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>14</TD><TD>G95R </TD><TD>M</TD><TD>283</TD><TD>G</TD><TD>C</TD><TD>[7]</TD></TR><TR><TD>15</TD><TD>W102X </TD><TD>M</TD><TD>305</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>16</TD><TD>317_318ins4 </TD><TD>I</TD><TD>317_318</TD><TD>GT</TD><TD>ACGG</TD><TD>[10]</TD></TR><TR><TD>17</TD><TD>A111G </TD><TD>M</TD><TD>332</TD><TD>C</TD><TD>G</TD><TD>[7]</TD></TR><TR><TD>18</TD><TD>I116F </TD><TD>M</TD><TD>346</TD><TD>A</TD><TD>T</TD><TD>[12]</TD></TR><TR><TD>19</TD><TD>397_400delAGAG </TD><TD>D</TD><TD>397_400</TD><TD>AGAG</TD><TD></TD><TD>[13]</TD></TR><TR><TD>20</TD><TD>399_402delAGAG </TD><TD>D</TD><TD>399_402</TD><TD>AGAG</TD><TD></TD><TD>[14]</TD></TR><TR><TD>21</TD><TD>E134K </TD><TD>M</TD><TD>400</TD><TD>G</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>22</TD><TD>Q136E </TD><TD>M</TD><TD>406</TD><TD>C</TD><TD>G</TD><TD>[12]</TD></TR><TR><TD>23</TD><TD>439_443del5 </TD><TD>D</TD><TD>439_443</TD><TD>GAAGT</TD><TD></TD><TD>[16]</TD></TR><TR><TD>24</TD><TD>EX5_6del </TD><TD>D</TD><TD>EX 5_6 del</TD><TD></TD><TD></TD><TD>[6]</TD></TR><TR><TD>25</TD><TD>509_510delGT </TD><TD>D</TD><TD>509_510</TD><TD>GT</TD><TD></TD><TD>[17]</TD></TR><TR><TD>26</TD><TD>510delT </TD><TD>D</TD><TD>510</TD><TD>T</TD><TD></TD><TD>[18]</TD></TR><TR><TD>27</TD><TD>524delC </TD><TD>D</TD><TD>524</TD><TD>C</TD><TD></TD><TD>[19]</TD></TR><TR><TD>28</TD><TD>557delA </TD><TD>D</TD><TD>557</TD><TD>A</TD><TD></TD><TD>[6]</TD></TR><TR><TD>29</TD><TD>558delA </TD><TD>D</TD><TD>558</TD><TD>A</TD><TD></TD><TD>[8]</TD></TR><TR><TD>30</TD><TD>585_586insT </TD><TD>I</TD><TD>585_586</TD><TD>TC</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>31</TD><TD>EX5_6del </TD><TD>D</TD><TD>EX 5_6 del</TD><TD></TD><TD></TD><TD>[6]</TD></TR><TR><TD>32</TD><TD>L228X </TD><TD>M</TD><TD>683</TD><TD>T</TD><TD>A</TD><TD>[5]</TD></TR><TR><TD>33</TD><TD>EX7del </TD><TD>D</TD><TD>EX 7 del</TD><TD></TD><TD></TD><TD>[20]</TD></TR><TR><TD>34</TD><TD>734_735insC </TD><TD>I</TD><TD>734_735</TD><TD>CA</TD><TD>C</TD><TD>[19]</TD></TR><TR><TD>35</TD><TD>P245L </TD><TD>M</TD><TD>734</TD><TD>C</TD><TD>T</TD><TD>[21]</TD></TR><TR><TD>36</TD><TD>739_740insC </TD><TD>I</TD><TD>739_740</TD><TD>CC</TD><TD>C</TD><TD>[2]</TD></TR><TR><TD>37</TD><TD>740_741insC </TD><TD>I</TD><TD>740_741</TD><TD>CT</TD><TD>C</TD><TD>[22]</TD></TR><TR><TD>38</TD><TD>778_779ins11 </TD><TD>I</TD><TD>778_779</TD><TD>TT</TD><TD>TGCTGATGCT</TD><TD>[23]</TD></TR><TR><TD>39</TD><TD>L260S </TD><TD>M</TD><TD>779</TD><TD>T</TD><TD>C</TD><TD>[10]</TD></TR><TR><TD>40</TD><TD>780_781ins11 </TD><TD>I</TD><TD>780_781</TD><TD>GG</TD><TD>CTGATGCTTT</TD><TD>[24]</TD></TR><TR><TD>41</TD><TD>S262G </TD><TD>M</TD><TD>784</TD><TD>A</TD><TD>G</TD><TD>[7]</TD></TR><TR><TD>42</TD><TD>S262I </TD><TD>M</TD><TD>785</TD><TD>G</TD><TD>T</TD><TD>[25]</TD></TR><TR><TD>43</TD><TD>M263R </TD><TD>M</TD><TD>788</TD><TD>T</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>44</TD><TD>Y272C </TD><TD>M</TD><TD>815</TD><TD>A</TD><TD>G</TD><TD>[26]</TD></TR><TR><TD>45</TD><TD>T274I </TD><TD>M</TD><TD>821</TD><TD>C</TD><TD>T</TD><TD>[25]</TD></TR><TR><TD>46</TD><TD>G275A </TD><TD>M</TD><TD>823</TD><TD>G</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>47</TD><TD>G275S </TD><TD>M</TD><TD>823</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>48</TD><TD>EX8del </TD><TD>D</TD><TD>EX 8 del</TD><TD></TD><TD></TD><TD>[27]</TD></TR><TR><TD>49</TD><TD>G279C </TD><TD>M</TD><TD>835</TD><TD>G</TD><TD>T</TD><TD>[28]</TD></TR><TR><TD>50</TD><TD>G279V </TD><TD>M</TD><TD>836</TD><TD>G</TD><TD>T</TD><TD>[29]</TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV>本项目在美国已经开展多年，费用昂贵，约3000美元/人（单基因遗传病检测的均价），目前国内开展单基因疾病检测的机构及公司较少，价格比美国稍便宜，约1500美元/人，随着成本的下降，检测费用会更低。目前可以做单基因遗传病检测机构包括：<a href='http://www.jmdna.com' title='解码DNA分子医学检测中心'>解码DNA分子医学检测中心（上海）等基因检测机构</a><div><dl class=reference><dt>参考资料</dt><dd>[1].  A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atroph</dd><dd>[2].  Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozy</dd><dd>[3].  Skordis 2001</dd><dd>[4].  Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification</dd><dd>[5].  Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.</dd><dd>[6].  Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in pa</dd><dd>[7].  Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atro</dd><dd>[8].  Wirth 1999</dd><dd>[9].  Sun 2005, (OMIM 0013)</dd><dd>[10].  Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identi</dd><dd>[11].  Sossi 2001, (OMIM 0010)</dd><dd>[12].  Detection of novel mutations in the SMN Tudor domain in type I SMA patients.</dd><dd>[13].  A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients</dd><dd>[14].  Bussaglia 1995, Cusco 2003, (OMIM 0011)</dd><dd>[15].  An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive s</dd><dd>[16].  Brahe 1996</dd><dd>[17].  Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen </dd><dd>[18].  Parsons 1998, Parsons 1998</dd><dd>[19].  -</dd><dd>[20].  Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.</dd><dd>[21].  Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.</dd><dd>[22].  Martin 2002</dd><dd>[23].  An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA</dd><dd>[24].  Parsons 1998, (OMIM 0001)</dd><dd>[25].  Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atro</dd><dd>[26].  Identification and characterization of a spinal muscular atrophy-determining gene.</dd><dd>[27].  Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron</dd><dd>[28].  Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular </dd><dd>[29].  Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and </dd></dl></div>