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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. (1993)</dd><dd>[2].  A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase </dd><dd>[3].  </dd><dd>[4].  The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.Am </dd><dd>[5].  Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian backgroun</dd><dd>[6].  Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs di</dd><dd>[7].  Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragmen</dd><dd>[8].  A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] d</dd><dd>[9].  Rapid identification of HEXA mutations in Tay-Sachs patients.Biochem Biophys Res Commun. 2010 Feb 19</dd><dd>[10].  An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skippin</dd><dd>[11].  Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs dise</dd><dd>[12].  Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.Biochim Biophys Acta</dd><dd>[13].  More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.Am J Hum Genet. 1</dd><dd>[14].  A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in norm</dd><dd>[15].  Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.Hum Mol Genet. 1993 Jan;2(1):6</dd><dd>[16].  Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.H</dd><dd>[17].  The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion a</dd><dd>[18].  A G to A mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.J</dd><dd>[19].  Tay-Sachs disease and HEXA mutations among Moroccan Jews.Hum Mutat. 1997;10(4):295-300.</dd><dd>[20].  Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcr</dd><dd>[21].  A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminid</dd><dd>[22].  Molecular genetics of Tay-Sachs disease in Japan.J Inherit Metab Dis. 1994;17(5):593-600.</dd><dd>[23].  A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase alpha-subunit ge</dd><dd>[24].  Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.Scien</dd><dd>[25].  Navon et al. (1997)</dd><dd>[26].  Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosami</dd><dd>[27].  Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidas</dd><dd>[28].  Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carri</dd><dd>[29].  Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Am J Hum Genet. </dd><dd>[30].  Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.Eur J Hum Genet. 19</dd><dd>[31].  Mules et al. (1992b)</dd><dd>[32].  Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.Hum Mutat. 1997;10</dd><dd>[33].  GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.Bioche</dd><dd>[34].  A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel m</dd><dd>[35].  A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-S</dd><dd>[36].  GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven pat</dd><dd>[37].  Mutation in GM2-gangliosidosis B1 variant.J Neurochem. 1988 Jan;50(1):316-8.</dd><dd>[38].  Late-onset G(M2)-gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (tyr180-to-his) in </dd><dd>[39].  Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Am</dd><dd>[40].  Novel Tay-Sachs disease mutations from China.Hum Mutat. 1992;1(1):40-6.</dd><dd>[41].  A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 varian</dd><dd>[42].  Novel mutations, including the second most common in Japan, in the beta-hexosaminidase alpha subunit</dd><dd>[43].  A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screenin</dd><dd>[44].  A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.Clin</dd><dd>[45].  A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onse</dd><dd>[46].  Ribeiro et al. (1996)</dd><dd>[47].  The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.S</dd><dd>[48].  Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alterna</dd><dd>[49].  Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosam</dd><dd>[50].  Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results</dd><dd>[51].  Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.Hum Mutat. 199</dd><dd>[52].  At least six di

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