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单基因遗传病：腓骨肌萎缩症,显性中间D型

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导读	<P>中文名称：腓骨肌萎缩症,显性中间D型</P><P>英文名称：Charcot-Marie-Tooth Disease, Dominant Intermediate D; Cmtdid </P><P>OMIM号： 607791 </P><P>所属系统：大脑和神经系统</P><...

中文名称：腓骨肌萎缩症,显性中间D型英文名称：Charcot-Marie-Tooth Disease, Dominant Intermediate D; Cmtdid OMIM号： 607791 所属系统：大脑和神经系统遗传方式：AD<DIV class=hdwiki_tmml>疾病简介</DIV>腓骨肌萎缩症（CMT）亦称为遗传性运动感觉神经病（HMSN）,具有明显的遗传异质性,临床主要特征是四肢远端进行性的肌无力和萎缩伴感觉障碍。CMT是最常见的遗传性周围神经病之一（发病率约为1/2500）。多数呈常染色体显性遗传,也可呈常染色体隐性或X-连锁遗传。常染色体隐性遗传的CMT虽发病率低但较其他两种遗传方式表型严重,且发病年龄较早。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：MPZ  参考序列：NM_000530 染色体位置：1q22 </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>IVS5+1G-T </TD><TD>S</TD><TD>IVS5 +1 G-T</TD><TD>G</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS4+2T-G </TD><TD>S</TD><TD>IVS4 +2 T-G</TD><TD>T</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS3+1G-A </TD><TD>S</TD><TD>IVS3 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>IVS3-1G-T </TD><TD>S</TD><TD>IVS3 -1 G-T</TD><TD>G</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>IVS3-1G-C </TD><TD>S</TD><TD>IVS3 -1 G-C</TD><TD>G</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>S20F </TD><TD>M</TD><TD>59</TD><TD>C</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>88_89delins11 </TD><TD>DI</TD><TD>88_89</TD><TD>AT</TD><TD>GGGGTTTACA</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>I30S </TD><TD>M</TD><TD>89</TD><TD>T</TD><TD>G</TD><TD>[8]</TD></TR><TR><TD>9</TD><TD>I30M </TD><TD>M</TD><TD>90</TD><TD>C</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>10</TD><TD>V32F </TD><TD>M</TD><TD>94</TD><TD>G</TD><TD>T</TD><TD>[10]</TD></TR><TR><TD>11</TD><TD>Y33F </TD><TD>M</TD><TD>98</TD><TD>A</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>12</TD><TD>T34I </TD><TD>M</TD><TD>101</TD><TD>C</TD><TD>T</TD><TD>[11]</TD></TR><TR><TD>13</TD><TD>H39P </TD><TD>M</TD><TD>116</TD><TD>A</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>14</TD><TD>S44F </TD><TD>M</TD><TD>131</TD><TD>C</TD><TD>T</TD><TD>[13]</TD></TR><TR><TD>15</TD><TD>S44C </TD><TD>M</TD><TD>131</TD><TD>C</TD><TD>G</TD><TD>[14]</TD></TR><TR><TD>16</TD><TD>L48P </TD><TD>M</TD><TD>143</TD><TD>T</TD><TD>C</TD><TD>[15]</TD></TR><TR><TD>17</TD><TD>148_150delTGC </TD><TD>D</TD><TD>148_150</TD><TD>TGC</TD><TD></TD><TD>[12]</TD></TR><TR><TD>18</TD><TD>C50G </TD><TD>M</TD><TD>148</TD><TD>T</TD><TD>G</TD><TD>[8]</TD></TR><TR><TD>19</TD><TD>S51F </TD><TD>M</TD><TD>152</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>20</TD><TD>S54P </TD><TD>M</TD><TD>160</TD><TD>T</TD><TD>C</TD><TD>[7]</TD></TR><TR><TD>21</TD><TD>S54C </TD><TD>M</TD><TD>161</TD><TD>C</TD><TD>G</TD><TD>[17]</TD></TR><TR><TD>22</TD><TD>E56K </TD><TD>M</TD><TD>166</TD><TD>G</TD><TD>A</TD><TD>[18]</TD></TR><TR><TD>23</TD><TD>V58F </TD><TD>M</TD><TD>172</TD><TD>G</TD><TD>T</TD><TD>[19]</TD></TR><TR><TD>24</TD><TD>V58D </TD><TD>M</TD><TD>173</TD><TD>T</TD><TD>A</TD><TD>[20]</TD></TR><TR><TD>25</TD><TD>D60H </TD><TD>M</TD><TD>178</TD><TD>G</TD><TD>C</TD><TD>[21]</TD></TR><TR><TD>26</TD><TD>D61N </TD><TD>M</TD><TD>181</TD><TD>G</TD><TD>A</TD><TD>[22]</TD></TR><TR><TD>27</TD><TD>D61G </TD><TD>M</TD><TD>182</TD><TD>A</TD><TD>G</TD><TD>[23]</TD></TR><TR><TD>28</TD><TD>I62F </TD><TD>M</TD><TD>184</TD><TD>A</TD><TD>T</TD><TD>[24]</TD></TR><TR><TD>29</TD><TD>I62M </TD><TD>M</TD><TD>186</TD><TD>C</TD><TD>G</TD><TD>[21]</TD></TR><TR><TD>30</TD><TD>187_189delTCC </TD><TD>D</TD><TD>187_189</TD><TD>TCC</TD><TD></TD><TD>[25]</TD></TR><TR><TD>31</TD><TD>S63F </TD><TD>M</TD><TD>188</TD><TD>C</TD><TD>T</TD><TD>[26]</TD></TR><TR><TD>32</TD><TD>T65A </TD><TD>M</TD><TD>193</TD><TD>A</TD><TD>G</TD><TD>[27]</TD></TR><TR><TD>33</TD><TD>T65I </TD><TD>M</TD><TD>194</TD><TD>C</TD><TD>T</TD><TD>[28]</TD></TR><TR><TD>34</TD><TD>T65N </TD><TD>M</TD><TD>194</TD><TD>C</TD><TD>A</TD><TD>[29]</TD></TR><TR><TD>35</TD><TD>R67P </TD><TD>M</TD><TD>200</TD><TD>G</TD><TD>C</TD><TD>[30]</TD></TR><TR><TD>36</TD><TD>Y68C </TD><TD>M</TD><TD>203</TD><TD>A</TD><TD>G</TD><TD>[19]</TD></TR><TR><TD>37</TD><TD>P70S </TD><TD>M</TD><TD>208</TD><TD>C</TD><TD>T</TD><TD>[31]</TD></TR><TR><TD>38</TD><TD>E71X </TD><TD>M</TD><TD>211</TD><TD>G</TD><TD>T</TD><TD>[32]</TD></TR><TR><TD>39</TD><TD>223delG </TD><TD>D</TD><TD>223</TD><TD>G</TD><TD></TD><TD>[14]</TD></TR><TR><TD>40</TD><TD>D75V </TD><TD>M</TD><TD>224</TD><TD>A</TD><TD>T</TD><TD>[33]</TD></TR><TR><TD>41</TD><TD>A76V </TD><TD>M</TD><TD>227</TD><TD>C</TD><TD>T</TD><TD>[33]</TD></TR><TR><TD>42</TD><TD>S78L </TD><TD>M</TD><TD>233</TD><TD>C</TD><TD>T</TD><TD>[34]</TD></TR><TR><TD>43</TD><TD>S78W </TD><TD>M</TD><TD>233</TD><TD>C</TD><TD>G</TD><TD>[35]</TD></TR><TR><TD>44</TD><TD>H81Y </TD><TD>M</TD><TD>241</TD><TD>C</TD><TD>T</TD><TD>[36]</TD></TR><TR><TD>45</TD><TD>H81R </TD><TD>M</TD><TD>242</TD><TD>A</TD><TD>G</TD><TD>[37]</TD></TR><TR><TD>46</TD><TD>Y82H </TD><TD>M</TD><TD>244</TD><TD>T</TD><TD>C</TD><TD>[38]</TD></TR><TR><TD>47</TD><TD>Y82C </TD><TD>M</TD><TD>245</TD><TD>A</TD><TD>G</TD><TD>[39]</TD></TR><TR><TD>48</TD><TD>I89N </TD><TD>M</TD><TD>266</TD><TD>T</TD><TD>A</TD><TD>[40]</TD></TR><TR><TD>49</TD><TD>D90E </TD><TD>M</TD><TD>270</TD><TD>C</TD><TD>A</TD><TD>[41]</TD></TR><TR><TD>50</TD><TD>V92M </TD><TD>M</TD><TD>274</TD><TD>G</TD><TD>A</TD><TD>[40]</TD></TR><TR><TD>51</TD><TD>G93E </TD><TD>M</TD><TD>278</TD><TD>G</TD><TD>A</TD><TD>[42]</TD></TR><TR><TD>52</TD><TD>K96E </TD><TD>M</TD><TD>286</TD><TD>A</TD><TD>G</TD><TD>[41]</TD></TR><TR><TD>53</TD><TD>E97V </TD><TD>M</TD><TD>290</TD><TD>A</TD><TD>T</TD><TD>[43]</TD></TR><TR><TD>54</TD><TD>R98C </TD><TD>M</TD><TD>292</TD><TD>C</TD><TD>T</TD><TD>[44]</TD></TR><TR><TD>55</TD><TD>R98S </TD><TD>M</TD><TD>292</TD><TD>C</TD><TD>A</TD><TD>[45]</TD></TR><TR><TD>56</TD><TD>R98P </TD><TD>M</TD><TD>293</TD><TD>G</TD><TD>C</TD><TD>[44]</TD></TR><TR><TD>57</TD><TD>R98H </TD><TD>M</TD><TD>293</TD><TD>G</TD><TD>A</TD><TD>[44]</TD></TR><TR><TD>58</TD><TD>I99T </TD><TD>M</TD><TD>296</TD><TD>T</TD><TD>C</TD><TD>[14]</TD></TR><TR><TD>59</TD><TD>Q100X </TD><TD>M</TD><TD>298</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>60</TD><TD>W101X </TD><TD>M</TD><TD>302</TD><TD>G</TD><TD>A</TD><TD>[46]</TD></TR><TR><TD>61</TD><TD>W101C </TD><TD>M</TD><TD>303</TD><TD>G</TD><TD>C</TD><TD>[47]</TD></TR><TR><TD>62</TD><TD>306delA </TD><TD>D</TD><TD>306</TD><TD>A</TD><TD></TD><TD>[45]</TD></TR><TR><TD>63</TD><TD>G103E </TD><TD>M</TD><TD>308</TD><TD>G</TD><TD>A</TD><TD>[48]</TD></TR><TR><TD>64</TD><TD>P105T </TD><TD>M</TD><TD>313</TD><TD>C</TD><TD>A</TD><TD>[49]</TD></TR><TR><TD>65</TD><TD>D109N </TD><TD>M</TD><TD>325</TD><TD>G</TD><TD>A</TD><TD>[50]</TD></TR><TR><TD>66</TD><TD>D109E </TD><TD>M</TD><TD>327</TD><TD>T</TD><TD>A</TD><TD>[51]</TD></TR><TR><TD>67</TD><TD>G110D </TD><TD>M</TD><TD>329</TD><TD>G</TD><TD>A</TD><TD>[52]</TD></TR><TR><TD>68</TD><TD>S111C </TD><TD>M</TD><TD>332</TD><TD>C</TD><TD>G</TD><TD>[53]</TD></TR><TR><TD>69</TD><TD>I112T </TD><TD>M</TD><TD>335</TD><TD>T</TD><TD>C</TD><TD>[19]</TD></TR><TR><TD>70</TD><TD>V113F </TD><TD>M</TD><TD>337</TD><TD>G</TD><TD>T</TD><TD>[36]</TD></TR><TR><TD>71</TD><TD>I114T </TD><TD>M</TD><TD>341</TD><TD>T</TD><TD>C</TD><TD>[54]</TD></TR><TR><TD>72</TD><TD>N116H </TD><TD>M</TD><TD>346</TD><TD>A</TD><TD>C</TD><TD>[54]</TD></TR><TR><TD>73</TD><TD>D118N </TD><TD>M</TD><TD>352</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>74</TD><TD>Y119C </TD><TD>M</TD><TD>356</TD><TD>A</TD><TD>G</TD><TD>[23]</TD></TR><TR><TD>75</TD><TD>N122S </TD><TD>M</TD><TD>365</TD><TD>A</TD><TD>G</TD><TD>[55]</TD></TR><TR><TD>76</TD><TD>G123S </TD><TD>M</TD><TD>367</TD><TD>G</TD><TD>A</TD><TD>[56]</TD></TR><TR><TD>77</TD><TD>G123C </TD><TD>M</TD><TD>367</TD><TD>G</TD><TD>T</TD><TD>[54]</TD></TR><TR><TD>78</TD><TD>G123S </TD><TD>M</TD><TD>367</TD><TD>G</TD><TD>A</TD><TD>[57]</TD></TR><TR><TD>79</TD><TD>T124A </TD><TD>M</TD><TD>370</TD><TD>A</TD><TD>G</TD><TD>[53]</TD></TR><TR><TD>80</TD><TD>T124M </TD><TD>M</TD><TD>371</TD><TD>C</TD><TD>T</TD><TD>[58]</TD></TR><TR><TD>81</TD><TD>D128E </TD><TD>M</TD><TD>384</TD><TD>C</TD><TD>G</TD><TD>[14]</TD></TR><TR><TD>82</TD><TD>K130R </TD><TD>M</TD><TD>389</TD><TD>A</TD><TD>G</TD><TD>[59]</TD></TR><TR><TD>83</TD><TD>P132L </TD><TD>M</TD><TD>395</TD><TD>C</TD><TD>T</TD><TD>[19]</TD></TR><TR><TD>84</TD><TD>D134N </TD><TD>M</TD><TD>400</TD><TD>G</TD><TD>A</TD><TD>[34]</TD></TR><TR><TD>85</TD><TD>D134G </TD><TD>M</TD><TD>401</TD><TD>A</TD><TD>G</TD><TD>[60]</TD></TR><TR><TD>86</TD><TD>D134E </TD><TD>M</TD><TD>402</TD><TD>C</TD><TD>A</TD><TD>[61]</TD></TR><TR><TD>87</TD><TD>I135L </TD><TD>M</TD><TD>403</TD><TD>A</TD><TD>C</TD><TD>[11]</TD></TR><TR><TD>88</TD><TD>I135T </TD><TD>M</TD><TD>404</TD><TD>T</TD><TD>C</TD><TD>[62]</TD></TR><TR><TD>89</TD><TD>G137S </TD><TD>M</TD><TD>409</TD><TD>G</TD><TD>A</TD><TD>[62]</TD></TR><TR><TD>90</TD><TD>K138N </TD><TD>M</TD><TD>414</TD><TD>G</TD><TD>C</TD><TD>[60]</TD></TR><TR><TD>91</TD><TD>T139N </TD><TD>M</TD><TD>416</TD><TD>C</TD><TD>A</TD><TD>[60]</TD></TR><TR><TD>92</TD><TD>S140T </TD><TD>M</TD><TD>418</TD><TD>T</TD><TD>A</TD><TD>[63]</TD></TR><TR><TD>93</TD><TD>Q141X </TD><TD>M</TD><TD>421</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>94</TD><TD>T143M </TD><TD>M</TD><TD>428</TD><TD>C</TD><TD>T</TD><TD>[14]</TD></TR><TR><TD>95</TD><TD>L144P </TD><TD>M</TD><TD>431</TD><TD>T</TD><TD>C</TD><TD>[46]</TD></TR><TR><TD>96</TD><TD>Y145S </TD><TD>M</TD><TD>434</TD><TD>A</TD><TD>C</TD><TD>[64]</TD></TR><TR><TD>97</TD><TD>Y145X </TD><TD>M</TD><TD>435</TD><TD>T</TD><TD>A/G</TD><TD>[53]</TD></TR><TR><TD>98</TD><TD>V146F </TD><TD>M</TD><TD>436</TD><TD>G</TD><TD>T</TD><TD>[65]</TD></TR><TR><TD>99</TD><TD>Y154X </TD><TD>M</TD><TD>462</TD><TD>C</TD><TD>A</TD><TD>[34]</TD></TR><TR><TD>100</TD><TD>I162M </TD><TD>M</TD><TD>486</TD><TD>C</TD><TD>G</TD><TD>[40]</TD></TR><TR><TD>101</TD><TD>G163R </TD><TD>M</TD><TD>487</TD><TD>G</TD><TD>C</TD><TD>[63]</TD></TR><TR><TD>102</TD><TD>G163R </TD><TD>M</TD><TD>487</TD><TD>G</TD><TD>A</TD><TD>[66]</TD></TR><TR><TD>103</TD><TD>G167R </TD><TD>M</TD><TD>499</TD><TD>G</TD><TD>A</TD><TD>[19]</TD></TR><TR><TD>104</TD><TD>L170R </TD><TD>M</TD><TD>509</TD><TD>T</TD><TD>G</TD><TD>[28]</TD></TR><TR><TD>105</TD><TD>522_525delGCTT </TD><TD>D</TD><TD>522_525</TD><TD>GCTT</TD><TD></TD><TD>[45]</TD></TR><TR><TD>106</TD><TD>Y181X </TD><TD>M</TD><TD>543</TD><TD>C</TD><TD>G</TD><TD>[34]</TD></TR><TR><TD>107</TD><TD>550_552delinsG </TD><TD>DI</TD><TD>550_552</TD><TD>CTA</TD><TD>G</TD><TD>[67]</TD></TR><TR><TD>108</TD><TD>553delC </TD><TD>D</TD><TD>553</TD><TD>C</TD><TD></TD><TD>[8]</TD></TR><TR><TD>109</TD><TD>554delG </TD><TD>D</TD><TD>554</TD><TD>G</TD><TD></TD><TD>[5]</TD></TR><TR><TD>110</TD><TD>570delG </TD><TD>D</TD><TD>570</TD><TD>G</TD><TD></TD><TD>[68]</TD></TR><TR><TD>111</TD><TD>614_615ins17 </TD><TD>I</TD><TD>614_615</TD><TD>CA</TD><TD>GGGAAATTGC</TD><TD>[5]</TD></TR><TR><TD>112</TD><TD>G206X </TD><TD>M</TD><TD>616</TD><TD>G</TD><TD>T</TD><TD>[69]</TD></TR><TR><TD>113</TD><TD>618_619insT </TD><TD>I</TD><TD>618_619</TD><TD>AA</TD><TD>T</TD><TD>[70]</TD></TR><TR><TD>114</TD><TD>Q215X </TD><TD>M</TD><TD>643</TD><TD>C</TD><TD>T</TD><TD>[45]</TD></TR><TR><TD>115</TD><TD>D224Y </TD><TD>M</TD><TD>670</TD><TD>G</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>116</TD><TD>D224Y </TD><TD>M</TD><TD>670</TD><TD>G</TD><TD>T</TD><TD>[71]</TD></TR><TR><TD>117</TD><TD>674_675insCA </TD><TD>I</TD><TD>674_675</TD><TD>AC</TD><TD>CA</TD><TD>[17]</TD></TR><TR><TD>118</TD><TD>697_700delAGTG </TD><TD>D</TD><TD>697_700</TD><TD>AGTG</TD><TD></TD><TD>[72]</TD></TR><TR><TD>119</TD><TD>706_708delAAG </TD><TD>D</TD><TD>706_708</TD><TD>AAG</TD><TD></TD><TD>[63]</TD></TR><TR><TD>120</TD><TD>K236E </TD><TD>M</TD><TD>706</TD><TD>A</TD><TD>G</TD><TD>[4]</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].  Seeman (2003) MPZ Locus-specific database Unpublished 109</dd><dd>[2].  Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.Neurology.</dd><dd>[3].  Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-T</dd><dd>[4].  Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy pati</dd><dd>[5].  Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Ma</dd><dd>[6].  Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor </dd><dd>[7].  Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish </dd><dd>[8].  Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Eur J Hum Genet</dd><dd>[9].  Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.Hum Mol Genet. 1993 Sep;2(9</dd><dd>[10].  Sobue (1999) Hum Genet 105 374</dd><dd>[11].  Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Toot</dd><dd>[12].  Phenotypic clustering in MPZ mutations.Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 7.</dd><dd>[13].  Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.Neurolog</dd><dd>[14].  Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.H</dd><dd>[15].  Marked phenotypic variation in a family with a new myelin protein zero mutation.Neuromuscul Disord. </dd><dd>[16].  Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB</dd><dd>[17].  3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype </dd><dd>[18].  An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein z</dd><dd>[19].  Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).Hum Mutat. 1998;Suppl 1:S242-7.</dd><dd>[20].  Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.J N</dd><dd>[21].  Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.urology. 200</dd><dd>[22].  Abstracts of the 6th Meeting of the Italian Peripheral Nerve Study Group. 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