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单基因遗传病：婴儿型家族性黑矇性痴呆

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导读	<P>中文名称：婴儿型家族性黑矇性痴呆</P><P>英文名称：Tay-Sachs Disease </P><P>OMIM号： 272800 </P><P>所属系统：精神健康和行为</P><P>遗传方式：AR</P><DIV class=hdwiki_tm...

中文名称：婴儿型家族性黑矇性痴呆英文名称：Tay-Sachs Disease OMIM号： 272800 所属系统：精神健康和行为遗传方式：AR<DIV class=hdwiki_tmml>疾病简介</DIV>婴儿型家族性黑矇性痴呆(Tay-SachsDisease,TSD),为一种特殊的遗传性疾病,常见于同一家庭中的兄弟姐妹数人,多发生在出生后第一年中,属GM2神经节苷脂病中之第一型。其病理特征主要为脑和视网膜神经节细胞内的神经节苷脂沉着,临床上以进行性智力衰退、失明和瘫痪为主要征象。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：HEXA  参考序列：NM_000520 染色体位置：15q23-q24 </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>IVS13-6T-C </TD><TD>S</TD><TD>IVS13 -6 T-C</TD><TD>T</TD><TD>C</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS12+1G-C </TD><TD>S</TD><TD>IVS12 +1 G-C</TD><TD>G</TD><TD>C</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS11+1G-A </TD><TD>S</TD><TD>IVS11 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>IVS11+1G-C </TD><TD>S</TD><TD>IVS11 +1 G-C</TD><TD>G</TD><TD>C</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>IVS10+18A-G </TD><TD>S</TD><TD>IVS10 +18 A-G</TD><TD>A</TD><TD>G</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>IVS9-12_-8del5 </TD><TD>D</TD><TD>IVS9 -12_-8 del 5</TD><TD>TCTCC</TD><TD></TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>IVS9+1G-A </TD><TD>S</TD><TD>IVS9 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>8</TD><TD>IVS9-1G-T </TD><TD>S</TD><TD>IVS9 -1 G-T</TD><TD>G</TD><TD>T</TD><TD>[8]</TD></TR><TR><TD>9</TD><TD>IVS8+5G-A </TD><TD>S</TD><TD>IVS8 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[9]</TD></TR><TR><TD>10</TD><TD>IVS8+3A-G </TD><TD>S</TD><TD>IVS8 +3 A-G</TD><TD>A</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>11</TD><TD>IVS7+2T-C </TD><TD>S</TD><TD>IVS7 +2 T-C</TD><TD>T</TD><TD>C</TD><TD>[11]</TD></TR><TR><TD>12</TD><TD>IVS7+1G-C </TD><TD>S</TD><TD>IVS7 +1 G-C</TD><TD>G</TD><TD>C</TD><TD>[12]</TD></TR><TR><TD>13</TD><TD>IVS7+1G-A </TD><TD>S</TD><TD>IVS7 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[13]</TD></TR><TR><TD>14</TD><TD>IVS7-7G-A </TD><TD>S</TD><TD>IVS7 -7 G-A</TD><TD>G</TD><TD>A</TD><TD>[14]</TD></TR><TR><TD>15</TD><TD>IVS6+30T-G </TD><TD>S</TD><TD>IVS6 +30 T-G</TD><TD>T</TD><TD>G</TD><TD>[5]</TD></TR><TR><TD>16</TD><TD>IVS6+1G-A </TD><TD>S</TD><TD>IVS6 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>17</TD><TD>IVS5+1G-A </TD><TD>S</TD><TD>IVS5 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[16]</TD></TR><TR><TD>18</TD><TD>IVS5-1G-T </TD><TD>S</TD><TD>IVS5 -1 G-T</TD><TD>G</TD><TD>T</TD><TD>[17]</TD></TR><TR><TD>19</TD><TD>IVS5-1G-A </TD><TD>S</TD><TD>IVS5 -1 G-A</TD><TD>G</TD><TD>A</TD><TD>[18]</TD></TR><TR><TD>20</TD><TD>IVS5-2A-G </TD><TD>S</TD><TD>IVS5 -2 A-G</TD><TD>A</TD><TD>G</TD><TD>[19]</TD></TR><TR><TD>21</TD><TD>IVS4+2_+3insT </TD><TD>I</TD><TD>IVS4 +2_+3 ins T</TD><TD>TA</TD><TD>T</TD><TD>[20]</TD></TR><TR><TD>22</TD><TD>IVS4+5G-A </TD><TD>S</TD><TD>IVS4 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>23</TD><TD>IVS4-1G-T </TD><TD>S</TD><TD>IVS4 -1 G-T</TD><TD>G</TD><TD>T</TD><TD>[21]</TD></TR><TR><TD>24</TD><TD>IVS3+1G-T </TD><TD>S</TD><TD>IVS3 +1 G-T</TD><TD>G</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>25</TD><TD>IVS3-1G-A </TD><TD>S</TD><TD>IVS3 -1 G-A</TD><TD>G</TD><TD>A</TD><TD>[23]</TD></TR><TR><TD>26</TD><TD>IVS2+1G-C </TD><TD>S</TD><TD>IVS2 +1 G-C</TD><TD>G</TD><TD>C</TD><TD>[6]</TD></TR><TR><TD>27</TD><TD>IVS2+1G-A </TD><TD>S</TD><TD>IVS2 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[7]</TD></TR><TR><TD>28</TD><TD>EX1del </TD><TD>D</TD><TD>EX 1 del</TD><TD></TD><TD></TD><TD>[24]</TD></TR><TR><TD>29</TD><TD>M1L </TD><TD>M</TD><TD>1</TD><TD>A</TD><TD>T</TD><TD>[25]</TD></TR><TR><TD>30</TD><TD>M1V </TD><TD>M</TD><TD>1</TD><TD>A</TD><TD>G</TD><TD>[26]</TD></TR><TR><TD>31</TD><TD>M1T </TD><TD>M</TD><TD>2</TD><TD>T</TD><TD>C</TD><TD>[27]</TD></TR><TR><TD>32</TD><TD>P25S </TD><TD>M</TD><TD>73</TD><TD>C</TD><TD>T</TD><TD>[27]</TD></TR><TR><TD>33</TD><TD>W26X </TD><TD>M</TD><TD>78</TD><TD>G</TD><TD>A</TD><TD>[6]</TD></TR><TR><TD>34</TD><TD>L39R </TD><TD>M</TD><TD>116</TD><TD>T</TD><TD>G</TD><TD>[15]</TD></TR><TR><TD>35</TD><TD>118delT </TD><TD>D</TD><TD>118</TD><TD>T</TD><TD></TD><TD>[28]</TD></TR><TR><TD>36</TD><TD>168_169delinsA </TD><TD>DI</TD><TD>168_169</TD><TD>CG</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>37</TD><TD>Q106X </TD><TD>M</TD><TD>316</TD><TD>C</TD><TD>T</TD><TD>[29]</TD></TR><TR><TD>38</TD><TD>L127F </TD><TD>M</TD><TD>379</TD><TD>C</TD><TD>T</TD><TD>[29]</TD></TR><TR><TD>39</TD><TD>L127R </TD><TD>M</TD><TD>380</TD><TD>T</TD><TD>G</TD><TD>[15]</TD></TR><TR><TD>40</TD><TD>R137X </TD><TD>M</TD><TD>409</TD><TD>C</TD><TD>T</TD><TD>[30]</TD></TR><TR><TD>41</TD><TD>424_425delTT </TD><TD>D</TD><TD>424_425</TD><TD>TT</TD><TD></TD><TD>[15]</TD></TR><TR><TD>42</TD><TD>436delG </TD><TD>D</TD><TD>436</TD><TD>G</TD><TD></TD><TD>[31]</TD></TR><TR><TD>43</TD><TD>477_478delTG </TD><TD>D</TD><TD>477_478</TD><TD>TG</TD><TD></TD><TD>[6]</TD></TR><TR><TD>44</TD><TD>495delC </TD><TD>D</TD><TD>495</TD><TD>C</TD><TD></TD><TD>[32]</TD></TR><TR><TD>45</TD><TD>496_498delinsGG </TD><TD>DI</TD><TD>496_498</TD><TD>CGC</TD><TD>GG</TD><TD>[33]</TD></TR><TR><TD>46</TD><TD>R166G </TD><TD>M</TD><TD>496</TD><TD>C</TD><TD>G</TD><TD>[33]</TD></TR><TR><TD>47</TD><TD>498delC </TD><TD>D</TD><TD>498</TD><TD>C</TD><TD></TD><TD>[33]</TD></TR><TR><TD>48</TD><TD>R170W </TD><TD>M</TD><TD>508</TD><TD>C</TD><TD>T</TD><TD>[34]</TD></TR><TR><TD>49</TD><TD>R170Q </TD><TD>M</TD><TD>509</TD><TD>G</TD><TD>A</TD><TD>[35]</TD></TR><TR><TD>50</TD><TD>R178C </TD><TD>M</TD><TD>532</TD><TD>C</TD><TD>T</TD><TD>[36]</TD></TR><TR><TD>51</TD><TD>R178L </TD><TD>M</TD><TD>533</TD><TD>G</TD><TD>T</TD><TD>[6]</TD></TR><TR><TD>52</TD><TD>R178H </TD><TD>M</TD><TD>533</TD><TD>G</TD><TD>A</TD><TD>[37]</TD></TR><TR><TD>53</TD><TD>Y180H </TD><TD>M</TD><TD>538</TD><TD>T</TD><TD>C</TD><TD>[38]</TD></TR><TR><TD>54</TD><TD>Y180X </TD><TD>M</TD><TD>540</TD><TD>C</TD><TD>G</TD><TD>[39]</TD></TR><TR><TD>55</TD><TD>546_547insA </TD><TD>I</TD><TD>546_547</TD><TD>AC</TD><TD>A</TD><TD>[40]</TD></TR><TR><TD>56</TD><TD>V192L </TD><TD>M</TD><TD>574</TD><TD>G</TD><TD>C</TD><TD>[41]</TD></TR><TR><TD>57</TD><TD>N196S </TD><TD>M</TD><TD>587</TD><TD>A</TD><TD>G</TD><TD>[5]</TD></TR><TR><TD>58</TD><TD>K197T </TD><TD>M</TD><TD>590</TD><TD>A</TD><TD>C</TD><TD>[15]</TD></TR><TR><TD>59</TD><TD>V200M </TD><TD>M</TD><TD>598</TD><TD>G</TD><TD>A</TD><TD>[41]</TD></TR><TR><TD>60</TD><TD>W203G </TD><TD>M</TD><TD>607</TD><TD>T</TD><TD>G</TD><TD>[11]</TD></TR><TR><TD>61</TD><TD>H204R </TD><TD>M</TD><TD>611</TD><TD>A</TD><TD>G</TD><TD>[15]</TD></TR><TR><TD>62</TD><TD>613delC </TD><TD>D</TD><TD>613</TD><TD>C</TD><TD></TD><TD>[42]</TD></TR><TR><TD>63</TD><TD>616delG </TD><TD>D</TD><TD>616</TD><TD>G</TD><TD></TD><TD>[11]</TD></TR><TR><TD>64</TD><TD>D207E </TD><TD>M</TD><TD>621</TD><TD>T</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>65</TD><TD>S210F </TD><TD>M</TD><TD>629</TD><TD>C</TD><TD>T</TD><TD>[30]</TD></TR><TR><TD>66</TD><TD>F211S </TD><TD>M</TD><TD>632</TD><TD>T</TD><TD>C</TD><TD>[15]</TD></TR><TR><TD>67</TD><TD>S226F </TD><TD>M</TD><TD>677</TD><TD>C</TD><TD>T</TD><TD>[29]</TD></TR><TR><TD>68</TD><TD>A246T </TD><TD>M</TD><TD>736</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>69</TD><TD>R247W </TD><TD>M</TD><TD>739</TD><TD>C</TD><TD>T</TD><TD>[43]</TD></TR><TR><TD>70</TD><TD>R249Q </TD><TD>M</TD><TD>746</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>71</TD><TD>G250S </TD><TD>M</TD><TD>748</TD><TD>G</TD><TD>A</TD><TD>[5]</TD></TR><TR><TD>72</TD><TD>G250V </TD><TD>M</TD><TD>749</TD><TD>G</TD><TD>T</TD><TD>[44]</TD></TR><TR><TD>73</TD><TD>G250D </TD><TD>M</TD><TD>749</TD><TD>G</TD><TD>A</TD><TD>[45]</TD></TR><TR><TD>74</TD><TD>R252H </TD><TD>M</TD><TD>755</TD><TD>G</TD><TD>A</TD><TD>[46]</TD></TR><TR><TD>75</TD><TD>756_767del12 </TD><TD>D</TD><TD>756_767</TD><TD>TGTGCTTGCAGA</TD><TD></TD><TD>[11]</TD></TR><TR><TD>76</TD><TD>D258H </TD><TD>M</TD><TD>772</TD><TD>G</TD><TD>C</TD><TD>[34]</TD></TR><TR><TD>77</TD><TD>T259A </TD><TD>M</TD><TD>775</TD><TD>A</TD><TD>G</TD><TD>[28]</TD></TR><TR><TD>78</TD><TD>794_795insTC </TD><TD>I</TD><TD>794_795</TD><TD>CC</TD><TD>TC</TD><TD>[3]</TD></TR><TR><TD>79</TD><TD>G269S </TD><TD>M</TD><TD>805</TD><TD>G</TD><TD>A</TD><TD>[47]</TD></TR><TR><TD>80</TD><TD>G269D </TD><TD>M</TD><TD>806</TD><TD>G</TD><TD>A</TD><TD>[29]</TD></TR><TR><TD>81</TD><TD>G272R </TD><TD>M</TD><TD>814</TD><TD>G</TD><TD>A</TD><TD>[48]</TD></TR><TR><TD>82</TD><TD>S279P </TD><TD>M</TD><TD>835</TD><TD>T</TD><TD>C</TD><TD>[32]</TD></TR><TR><TD>83</TD><TD>F300L </TD><TD>M</TD><TD>898</TD><TD>T</TD><TD>C</TD><TD>[3]</TD></TR><TR><TD>84</TD><TD>M301R </TD><TD>M</TD><TD>902</TD><TD>T</TD><TD>G</TD><TD>[30]</TD></TR><TR><TD>85</TD><TD>913_915delTTC </TD><TD>D</TD><TD>913_915 del TTC</TD><TD>TTC</TD><TD></TD><TD>[49]</TD></TR><TR><TD>86</TD><TD>913_915delTTC </TD><TD>D</TD><TD>913_915</TD><TD>TTC</TD><TD></TD><TD>[7]</TD></TR><TR><TD>87</TD><TD>927_928delCT </TD><TD>D</TD><TD>927_928 del CT</TD><TD>CT</TD><TD></TD><TD>[43]</TD></TR><TR><TD>88</TD><TD>929_930delCT </TD><TD>D</TD><TD>929_930</TD><TD>CT</TD><TD></TD><TD>[34]</TD></TR><TR><TD>89</TD><TD>D314V </TD><TD>M</TD><TD>941</TD><TD>A</TD><TD>T</TD><TD>[29]</TD></TR><TR><TD>90</TD><TD>947_948insA </TD><TD>I</TD><TD>947_948</TD><TD>AT</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>91</TD><TD>961_963delGGA </TD><TD>D</TD><TD>961_963</TD><TD>GGA</TD><TD></TD><TD>[26]</TD></TR><TR><TD>92</TD><TD>D322V </TD><TD>M</TD><TD>965</TD><TD>A</TD><TD>T</TD><TD>[28]</TD></TR><TR><TD>93</TD><TD>V324V </TD><TD>M</TD><TD>972</TD><TD>T</TD><TD>A</TD><TD>[50]</TD></TR><TR><TD>94</TD><TD>W329X </TD><TD>M</TD><TD>986</TD><TD>G</TD><TD>A</TD><TD>[26]</TD></TR><TR><TD>95</TD><TD>W329X </TD><TD>M</TD><TD>987</TD><TD>G</TD><TD>A</TD><TD>[31]</TD></TR><TR><TD>96</TD><TD>I335F </TD><TD>M</TD><TD>1003</TD><TD>A</TD><TD>T</TD><TD>[51]</TD></TR><TR><TD>97</TD><TD>1039_1056del18 </TD><TD>D</TD><TD>1039_1056</TD><TD>GACTTCAAGCAGCTGGAG</TD><TD></TD><TD>[51]</TD></TR><TR><TD>98</TD><TD>1043_1046delTCAA </TD><TD>D</TD><TD>1043_1046</TD><TD>TCAA</TD><TD></TD><TD>[11]</TD></TR><TR><TD>99</TD><TD>1061_1063delTCT </TD><TD>D</TD><TD>1061_1063</TD><TD>TCT</TD><TD></TD><TD>[11]</TD></TR><TR><TD>100</TD><TD>1096_1107del12 </TD><TD>D</TD><TD>1096_1107</TD><TD>TATGGCAAGGGC</TD><TD></TD><TD>[52]</TD></TR><TR><TD>101</TD><TD>Q374R </TD><TD>M</TD><TD>1121</TD><TD>A</TD><TD>G</TD><TD>[11]</TD></TR><TR><TD>102</TD><TD>1123delG </TD><TD>D</TD><TD>1123</TD><TD>G</TD><TD></TD><TD>[11]</TD></TR><TR><TD>103</TD><TD>I388M </TD><TD>M</TD><TD>1164</TD><TD>C</TD><TD>G</TD><TD>[5]</TD></TR><TR><TD>104</TD><TD>Q390X </TD><TD>M</TD><TD>1168</TD><TD>C</TD><TD>T</TD><TD>[29]</TD></TR><TR><TD>105</TD><TD>W392X </TD><TD>M</TD><TD>1175</TD><TD>G</TD><TD>A</TD><TD>[53]</TD></TR><TR><TD>106</TD><TD>W392X </TD><TD>M</TD><TD>1176</TD><TD>G</TD><TD>A</TD><TD>[54]</TD></TR><TR><TD>107</TD><TD>R393X </TD><TD>M</TD><TD>1177</TD><TD>C</TD><TD>T</TD><TD>[30]</TD></TR><TR><TD>108</TD><TD>1182delG </TD><TD>D</TD><TD>1182</TD><TD>G</TD><TD></TD><TD>[51]</TD></TR><TR><TD>109</TD><TD>N399D </TD><TD>M</TD><TD>1195</TD><TD>A</TD><TD>G</TD><TD>[31]</TD></TR><TR><TD>110</TD><TD>1204_1206delAAG </TD><TD>D</TD><TD>1204_1206</TD><TD>AAG</TD><TD></TD><TD>[29]</TD></TR><TR><TD>111</TD><TD>1211_1212delTG </TD><TD>D</TD><TD>1211_1212</TD><TD>TG</TD><TD></TD><TD>[9]</TD></TR><TR><TD>112</TD><TD>W420C </TD><TD>M</TD><TD>1260</TD><TD>G</TD><TD>C</TD><TD>[55]</TD></TR><TR><TD>113</TD><TD>1277_1278insTATC </TD><TD>I</TD><TD>1277_1278</TD><TD>CC</TD><TD>TATC</TD><TD>[56]</TD></TR><TR><TD>114</TD><TD>W431X </TD><TD>M</TD><TD>1292</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>115</TD><TD>Y435Y </TD><TD>M</TD><TD>1305</TD><TD>C</TD><TD>T</TD><TD>[48]</TD></TR><TR><TD>116</TD><TD>1336delC </TD><TD>D</TD><TD>1336 del C</TD><TD>C</TD><TD></TD><TD>[57]</TD></TR><TR><TD>117</TD><TD>L451V </TD><TD>M</TD><TD>1351</TD><TD>C</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>118</TD><TD>G454S </TD><TD>M</TD><TD>1360</TD><TD>G</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>119</TD><TD>G454D </TD><TD>M</TD><TD>1361</TD><TD>G</TD><TD>A</TD><TD>[52]</TD></TR><TR><TD>120</TD><TD>G455R </TD><TD>M</TD><TD>1363</TD><TD>G</TD><TD>A</TD><TD>[57]</TD></TR><TR><TD>121</TD><TD>C458Y </TD><TD>M</TD><TD>1373</TD><TD>G</TD><TD>A</TD><TD>[22]</TD></TR><TR><TD>122</TD><TD>D465N </TD><TD>M</TD><TD>1393</TD><TD>G</TD><TD>A</TD><TD>[58]</TD></TR><TR><TD>123</TD><TD>W474C </TD><TD>M</TD><TD>1422</TD><TD>G</TD><TD>C</TD><TD>[59]</TD></TR><TR><TD>124</TD><TD>E482K </TD><TD>M</TD><TD>1444</TD><TD>G</TD><TD>A</TD><TD>[60]</TD></TR><TR><TD>125</TD><TD>L484P </TD><TD>M</TD><TD>1451</TD><TD>T</TD><TD>C</TD><TD>[61]</TD></TR><TR><TD>126</TD><TD>W485R </TD><TD>M</TD><TD>1453</TD><TD>T</TD><TD>C</TD><TD>[40]</TD></TR><TR><TD>127</TD><TD>1470_1474del5 </TD><TD>D</TD><TD>1470_1474</TD><TD>ATCTG</TD><TD></TD><TD>[11]</TD></TR><TR><TD>128</TD><TD>R499C </TD><TD>M</TD><TD>1495</TD><TD>C</TD><TD>T</TD><TD>[26]</TD></TR><TR><TD>129</TD><TD>R499H </TD><TD>M</TD><TD>1496</TD><TD>G</TD><TD>A</TD><TD>[6]</TD></TR><TR><TD>130</TD><TD>1509delC </TD><TD>D</TD><TD>1509</TD><TD>C</TD><TD></TD><TD>[62]</TD></TR><TR><TD>131</TD><TD>R504C </TD><TD>M</TD><TD>1510</TD><TD>C</TD><TD>T</TD><TD>[30]</TD></TR><TR><TD>132</TD><TD>1549_1550insC </TD><TD>I</TD><TD>1549_1550</TD><TD>CT</TD><TD>C</TD><TD>[63]</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].  Kaplan et al. 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