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单基因遗传病：赫尔勒综合征（粘多糖贮积病1H型）

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导读	<P>中文名称：赫尔勒综合征（粘多糖贮积病1H型）</P><P>英文名称：Hurler Syndrome </P><P>OMIM号： 607014 </P><P>所属系统：多系统疾病</P><P>遗传方式：AD</P><DIV class=hdwiki_...

中文名称：赫尔勒综合征（粘多糖贮积病1H型）英文名称：Hurler Syndrome OMIM号： 607014 所属系统：多系统疾病遗传方式：AD<DIV class=hdwiki_tmml>疾病简介</DIV>粘多糖病I-H型(MPS-IH型),又称Hurler综合征,Hurler基因位于1号染色体上。在粘多糖中硫酸皮肤素和硫酸肝素中有L-艾杜糖醛酸的成分,其降解需要α-L-艾杜糖醛酸苷酶。由于此酶缺乏,其前体物的降解受阻而在体内堆积。硫酸皮肤素和硫酸肝素为角膜、软骨、骨骼、皮肤、筋膜、心瓣膜和血管结缔组织的结构成分,多为细胞膜外层的结构成分,细胞死亡后可释放出堆积的粘多糖。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：IDUA  参考序列：NM_000203 染色体位置：4p16.3 </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>IVS12+2T-G </TD><TD>S</TD><TD>IVS12 +2 T-G</TD><TD>T</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS12+5G-A </TD><TD>S</TD><TD>IVS12 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS12+2T-A </TD><TD>S</TD><TD>IVS12 +2 T-A</TD><TD>T</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>IVS11+5G-A </TD><TD>S</TD><TD>IVS11 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>IVS11-1G-T </TD><TD>S</TD><TD>IVS11 -1 G-T</TD><TD>G</TD><TD>T</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>IVS7+2T-C </TD><TD>S</TD><TD>IVS7 +2 T-C</TD><TD>T</TD><TD>C</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>IVS3-2A-G </TD><TD>S</TD><TD>IVS3 -2 A-G</TD><TD>A</TD><TD>G</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>IVS2+6C-T </TD><TD>S</TD><TD>IVS2 +6 C-T</TD><TD>C</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>9</TD><TD>IVS2-3C-G </TD><TD>S</TD><TD>IVS2 -3 C-G</TD><TD>C</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>10</TD><TD>M1I </TD><TD>M</TD><TD>3</TD><TD>G</TD><TD>A</TD><TD>[10]</TD></TR><TR><TD>11</TD><TD>46_57del12 </TD><TD>D</TD><TD>46_57</TD><TD>TCGCTCCTGGCC</TD><TD></TD><TD>[11]</TD></TR><TR><TD>12</TD><TD>63delC </TD><TD>D</TD><TD>63</TD><TD>C</TD><TD></TD><TD>[2]</TD></TR><TR><TD>13</TD><TD>144_146delGAG </TD><TD>D</TD><TD>144_146</TD><TD>GAG</TD><TD></TD><TD>[5]</TD></TR><TR><TD>14</TD><TD>G51D </TD><TD>M</TD><TD>152</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>15</TD><TD>C53X </TD><TD>M</TD><TD>159</TD><TD>C</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>16</TD><TD>161_162insC </TD><TD>I</TD><TD>161_162</TD><TD>CC</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>17</TD><TD>Q60X </TD><TD>M</TD><TD>178</TD><TD>C</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>18</TD><TD>Q63X </TD><TD>M</TD><TD>187</TD><TD>C</TD><TD>T</TD><TD>[13]</TD></TR><TR><TD>19</TD><TD>Y64X </TD><TD>M</TD><TD>192</TD><TD>C</TD><TD>A</TD><TD>[14]</TD></TR><TR><TD>20</TD><TD>Q70X </TD><TD>M</TD><TD>208</TD><TD>C</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>21</TD><TD>A75P </TD><TD>M</TD><TD>223</TD><TD>G</TD><TD>C</TD><TD>[13]</TD></TR><TR><TD>22</TD><TD>A75T </TD><TD>M</TD><TD>223</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>23</TD><TD>A79V </TD><TD>M</TD><TD>236</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>24</TD><TD>H82P </TD><TD>M</TD><TD>245</TD><TD>A</TD><TD>C</TD><TD>[15]</TD></TR><TR><TD>25</TD><TD>R89W </TD><TD>M</TD><TD>265</TD><TD>C</TD><TD>T</TD><TD>[12]</TD></TR><TR><TD>26</TD><TD>R89Q </TD><TD>M</TD><TD>266</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>27</TD><TD>308_309insAC </TD><TD>I</TD><TD>308_309</TD><TD>CT</TD><TD>AC</TD><TD>[12]</TD></TR><TR><TD>28</TD><TD>380_382delTCC </TD><TD>D</TD><TD>380_382</TD><TD>TCC</TD><TD></TD><TD>[4]</TD></TR><TR><TD>29</TD><TD>398_403del6 </TD><TD>D</TD><TD>398_403</TD><TD>TGGGCA</TD><TD></TD><TD>[4]</TD></TR><TR><TD>30</TD><TD>M133I </TD><TD>M</TD><TD>399</TD><TD>G</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>31</TD><TD>T141S </TD><TD>M</TD><TD>422</TD><TD>C</TD><TD>G</TD><TD>[8]</TD></TR><TR><TD>32</TD><TD>A160D </TD><TD>M</TD><TD>479</TD><TD>C</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>33</TD><TD>R162I </TD><TD>M</TD><TD>485</TD><TD>G</TD><TD>T</TD><TD>[18]</TD></TR><TR><TD>34</TD><TD>E178K </TD><TD>M</TD><TD>532</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>35</TD><TD>540_544del5 </TD><TD>D</TD><TD>540_544</TD><TD>GAATG</TD><TD></TD><TD>[2]</TD></TR><TR><TD>36</TD><TD>E182K </TD><TD>M</TD><TD>544</TD><TD>G</TD><TD>A</TD><TD>[19]</TD></TR><TR><TD>37</TD><TD>P183R </TD><TD>M</TD><TD>548</TD><TD>C</TD><TD>G</TD><TD>[4]</TD></TR><TR><TD>38</TD><TD>G197D </TD><TD>M</TD><TD>590</TD><TD>G</TD><TD>A</TD><TD>[4]</TD></TR><TR><TD>39</TD><TD>594_595insAC </TD><TD>I</TD><TD>594_595</TD><TD>CC</TD><TD>AC</TD><TD>[11]</TD></TR><TR><TD>40</TD><TD>Y202X </TD><TD>M</TD><TD>606</TD><TD>C</TD><TD>A</TD><TD>[5]</TD></TR><TR><TD>41</TD><TD>D203N </TD><TD>M</TD><TD>607</TD><TD>G</TD><TD>A</TD><TD>[20]</TD></TR><TR><TD>42</TD><TD>615_636delins10 </TD><TD>DI</TD><TD>615_636</TD><TD>CTCGGAGGGTCTGCGCGCCG</TD><TD>AACTACTACG</TD><TD>[21]</TD></TR><TR><TD>43</TD><TD>616_617ins5 </TD><TD>I</TD><TD>616_617</TD><TD>TC</TD><TD>CTGCT</TD><TD>[22]</TD></TR><TR><TD>44</TD><TD>G208V </TD><TD>M</TD><TD>623</TD><TD>G</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>45</TD><TD>G208D </TD><TD>M</TD><TD>623</TD><TD>G</TD><TD>A</TD><TD>[18]</TD></TR><TR><TD>46</TD><TD>652delC </TD><TD>D</TD><TD>652</TD><TD>C</TD><TD></TD><TD>[2]</TD></TR><TR><TD>47</TD><TD>L218P </TD><TD>M</TD><TD>653</TD><TD>T</TD><TD>C</TD><TD>[11]</TD></TR><TR><TD>48</TD><TD>659delG </TD><TD>D</TD><TD>659</TD><TD>G</TD><TD></TD><TD>[2]</TD></TR><TR><TD>49</TD><TD>667_671del5 </TD><TD>D</TD><TD>667_671</TD><TD>GACTC</TD><TD></TD><TD>[4]</TD></TR><TR><TD>50</TD><TD>L238Q </TD><TD>M</TD><TD>713</TD><TD>T</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>51</TD><TD>S260F </TD><TD>M</TD><TD>779</TD><TD>C</TD><TD>T</TD><TD>[5]</TD></TR><TR><TD>52</TD><TD>G265R </TD><TD>M</TD><TD>793</TD><TD>G</TD><TD>C</TD><TD>[3]</TD></TR><TR><TD>53</TD><TD>E274X </TD><TD>M</TD><TD>820</TD><TD>G</TD><TD>T</TD><TD>[7]</TD></TR><TR><TD>54</TD><TD>876delC </TD><TD>D</TD><TD>876</TD><TD>C</TD><TD></TD><TD>[11]</TD></TR><TR><TD>55</TD><TD>888_889ins12 </TD><TD>I</TD><TD>888_889</TD><TD>CA</TD><TD>ACCCCCATTT</TD><TD>[12]</TD></TR><TR><TD>56</TD><TD>E299X </TD><TD>M</TD><TD>895</TD><TD>G</TD><TD>T</TD><TD>[23]</TD></TR><TR><TD>57</TD><TD>Q310X </TD><TD>M</TD><TD>928</TD><TD>C</TD><TD>T</TD><TD>[14]</TD></TR><TR><TD>58</TD><TD>D315Y </TD><TD>M</TD><TD>943</TD><TD>G</TD><TD>T</TD><TD>[17]</TD></TR><TR><TD>59</TD><TD>A327P </TD><TD>M</TD><TD>979</TD><TD>G</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>60</TD><TD>Y343X </TD><TD>M</TD><TD>1029</TD><TD>C</TD><TD>G</TD><TD>[24]</TD></TR><TR><TD>61</TD><TD>Y343X </TD><TD>M</TD><TD>1029</TD><TD>C</TD><TD>A</TD><TD>[13]</TD></TR><TR><TD>62</TD><TD>L346R </TD><TD>M</TD><TD>1037</TD><TD>T</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>63</TD><TD>1044_1049del6 </TD><TD>D</TD><TD>1044_1049</TD><TD>CGACAA</TD><TD></TD><TD>[12]</TD></TR><TR><TD>64</TD><TD>D349Y </TD><TD>M</TD><TD>1045</TD><TD>G</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>65</TD><TD>D349N </TD><TD>M</TD><TD>1045</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>66</TD><TD>N350I </TD><TD>M</TD><TD>1049</TD><TD>A</TD><TD>T</TD><TD>[5]</TD></TR><TR><TD>67</TD><TD>R363C </TD><TD>M</TD><TD>1087</TD><TD>C</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>68</TD><TD>T364M </TD><TD>M</TD><TD>1091</TD><TD>C</TD><TD>T</TD><TD>[10]</TD></TR><TR><TD>69</TD><TD>T366P </TD><TD>M</TD><TD>1096</TD><TD>A</TD><TD>C</TD><TD>[14]</TD></TR><TR><TD>70</TD><TD>Q380R </TD><TD>M</TD><TD>1139</TD><TD>A</TD><TD>G</TD><TD>[17]</TD></TR><TR><TD>71</TD><TD>R383H </TD><TD>M</TD><TD>1148</TD><TD>G</TD><TD>A</TD><TD>[12]</TD></TR><TR><TD>72</TD><TD>1163delC </TD><TD>D</TD><TD>1163</TD><TD>C</TD><TD></TD><TD>[4]</TD></TR><TR><TD>73</TD><TD>T388R </TD><TD>M</TD><TD>1163</TD><TD>C</TD><TD>G</TD><TD>[25]</TD></TR><TR><TD>74</TD><TD>W402X </TD><TD>M</TD><TD>1205</TD><TD>G</TD><TD>A</TD><TD>[26]</TD></TR><TR><TD>75</TD><TD>E404X </TD><TD>M</TD><TD>1210</TD><TD>G</TD><TD>T</TD><TD>[12]</TD></TR><TR><TD>76</TD><TD>G409R </TD><TD>M</TD><TD>1225</TD><TD>G</TD><TD>C</TD><TD>[14]</TD></TR><TR><TD>77</TD><TD>1264delG </TD><TD>D</TD><TD>1264</TD><TD>G</TD><TD></TD><TD>[18]</TD></TR><TR><TD>78</TD><TD>S423R </TD><TD>M</TD><TD>1269</TD><TD>C</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>79</TD><TD>1330_1332delGAC </TD><TD>D</TD><TD>1330_1332</TD><TD>GAC</TD><TD></TD><TD>[12]</TD></TR><TR><TD>80</TD><TD>R489P </TD><TD>M</TD><TD>1466</TD><TD>G</TD><TD>C</TD><TD>[11]</TD></TR><TR><TD>81</TD><TD>L490P </TD><TD>M</TD><TD>1469</TD><TD>T</TD><TD>C</TD><TD>[27]</TD></TR><TR><TD>82</TD><TD>R492P </TD><TD>M</TD><TD>1475</TD><TD>G</TD><TD>C</TD><TD>[27]</TD></TR><TR><TD>83</TD><TD>P496L </TD><TD>M</TD><TD>1487</TD><TD>C</TD><TD>T</TD><TD>[27]</TD></TR><TR><TD>84</TD><TD>P496R </TD><TD>M</TD><TD>1487</TD><TD>C</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>85</TD><TD>M504T </TD><TD>M</TD><TD>1511</TD><TD>T</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>86</TD><TD>P533L </TD><TD>M</TD><TD>1598</TD><TD>C</TD><TD>T</TD><TD>[13]</TD></TR><TR><TD>87</TD><TD>P533R </TD><TD>M</TD><TD>1598</TD><TD>C</TD><TD>G</TD><TD>[26]</TD></TR><TR><TD>88</TD><TD>1614delG </TD><TD>D</TD><TD>1614</TD><TD>G</TD><TD></TD><TD>[6]</TD></TR><TR><TD>89</TD><TD>Q561X </TD><TD>M</TD><TD>1681</TD><TD>C</TD><TD>T</TD><TD>[5]</TD></TR><TR><TD>90</TD><TD>1695_1705del11 </TD><TD>D</TD><TD>1695_1705</TD><TD>TCTGGTCTGGT</TD><TD></TD><TD>[12]</TD></TR><TR><TD>91</TD><TD>Q584X </TD><TD>M</TD><TD>1750</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>92</TD><TD>F602I </TD><TD>M</TD><TD>1804</TD><TD>T</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>93</TD><TD>1814_1815delTT </TD><TD>D</TD><TD>1814_1815</TD><TD>TT</TD><TD></TD><TD>[4]</TD></TR><TR><TD>94</TD><TD>R619X </TD><TD>M</TD><TD>1855</TD><TD>C</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>95</TD><TD>R619G </TD><TD>M</TD><TD>1855</TD><TD>C</TD><TD>G</TD><TD>[28]</TD></TR><TR><TD>96</TD><TD>V620F </TD><TD>M</TD><TD>1858</TD><TD>G</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>97</TD><TD>R621X </TD><TD>M</TD><TD>1861</TD><TD>C</TD><TD>T</TD><TD>[11]</TD></TR><TR><TD>98</TD><TD>W626R </TD><TD>M</TD><TD>1876</TD><TD>T</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>99</TD><TD>W626X </TD><TD>M</TD><TD>1878</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>100</TD><TD>R628X </TD><TD>M</TD><TD>1882</TD><TD>C</TD><TD>T</TD><TD>[2]</TD></TR><TR><TD>101</TD><TD>R628P </TD><TD>M</TD><TD>1883</TD><TD>G</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>102</TD><TD>1907_1917del11 </TD><TD>D</TD><TD>1907_1917</TD><TD>TGCCGTACCTG</TD><TD></TD><TD>[12]</TD></TR><TR><TD>103</TD><TD>1918_1927del10 </TD><TD>D</TD><TD>1918_1927</TD><TD>GAGGTCCCTG</TD><TD></TD><TD>[1]</TD></TR><TR><TD>104</TD><TD>X654G </TD><TD>M</TD><TD>1960</TD><TD>T</TD><TD>G</TD><TD>[27]</TD></TR><TR><TD>105</TD><TD>X654C </TD><TD>M</TD><TD>1962</TD><TD>A</TD><TD>T</TD><TD>[14]</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].  Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functiona</dd><dd>[2].  Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, ident</dd><dd>[3].  Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysa</dd><dd>[4].  Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectru</dd><dd>[5].  Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.Mol</dd><dd>[6].  Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie synd</dd><dd>[7].  Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two </dd><dd>[8].  Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of th</dd><dd>[9].  Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronid</dd><dd>[10].  Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in</dd><dd>[11].  Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency</dd><dd>[12].  Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.H</dd><dd>[13].  Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the form</dd><dd>[14].  Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic </dd><dd>[15].  Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational an</dd><dd>[16].  Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-idu</dd><dd>[17].  Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implication</dd><dd>[18].  Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-</dd><dd>[19].  Glycosidase active site mutations in human alpha-L-iduronidase.Glycobiology. 2001 Sep;11(9):741-50.</dd><dd>[20].  [A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].Zh</dd><dd>[21].  A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (muco</dd><dd>[22].  Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndro</dd><dd>[23].  The molecular basis of mucopolysaccharidosis type I in two Thai patients.Southeast Asian J Trop Med </dd><dd>[24].  A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurl</dd><dd>[25].  Bartholomew (1998) Hum Mutat 12 291</dd><dd>[26].  A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotyp</dd><dd>[27].  Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS</dd><dd>[28].  Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase acti</dd></dl></div>

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