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单基因遗传病：常染色体隐性非综合征性耳聋

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导读	<P>中文名称：常染色体隐性非综合征性耳聋</P><P>英文名称：Deafness, Autosomal Recessive 1A; Dfnb1A </P><P>OMIM号： 220290 </P><P>所属系统：耳,鼻,喉</P><P>遗传方式：AR</P>...

中文名称：常染色体隐性非综合征性耳聋英文名称：Deafness, Autosomal Recessive 1A; Dfnb1A OMIM号： 220290 所属系统：耳,鼻,喉遗传方式：AR<DIV class=hdwiki_tmml>疾病简介</DIV>遗传性耳聋指的是由于基因和染色体异常所致的耳聋。在每1000个新生儿中就有一位患有先天性耳聋,其中60％以上是由遗传因素引起的,遗传性聋的群体发病率已超过27／1000,在所有耳聋病人中,遗传性聋约占50％。遗传性聋分为综合征性遗传性聋及非综合征性遗传性聋两大类。前者指除了耳聋以外,同时存在眼、骨、肾、皮肤等部位的病变,这类耳聋占遗传性聋的30％；后者只出现耳聋的症状,在遗传性聋中占70%。<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：GJB2  参考序列：NM_004004 染色体位置：13q11-q12 </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>IVS1+1G-A </TD><TD>S</TD><TD>IVS1 +1 G-A</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>M1V </TD><TD>M</TD><TD>1</TD><TD>A</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>T8M </TD><TD>M</TD><TD>23</TD><TD>C</TD><TD>T</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>30delG </TD><TD>D</TD><TD>30</TD><TD>G</TD><TD></TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>31_44del14 </TD><TD>D</TD><TD>31_44</TD><TD>GGGGGTGTGAACAA</TD><TD></TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>32_33insG </TD><TD>I</TD><TD>32_33</TD><TD>GG</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>7</TD><TD>32delG </TD><TD>D</TD><TD>32</TD><TD>G</TD><TD></TD><TD>[6]</TD></TR><TR><TD>8</TD><TD>35_36insG </TD><TD>I</TD><TD>35_36</TD><TD>GT</TD><TD>G</TD><TD>[7]</TD></TR><TR><TD>9</TD><TD>35delG </TD><TD>D</TD><TD>35</TD><TD>G</TD><TD></TD><TD>[8]</TD></TR><TR><TD>10</TD><TD>35delG </TD><TD>D</TD><TD>35</TD><TD>G</TD><TD></TD><TD>[9]</TD></TR><TR><TD>11</TD><TD>G12V </TD><TD>M</TD><TD>35</TD><TD>G</TD><TD>T</TD><TD>[10]</TD></TR><TR><TD>12</TD><TD>K15T </TD><TD>M</TD><TD>44</TD><TD>A</TD><TD>C</TD><TD>[11]</TD></TR><TR><TD>13</TD><TD>51_62delinsA </TD><TD>DI</TD><TD>51_62</TD><TD>CACCAGCATTGG</TD><TD>A</TD><TD>[12]</TD></TR><TR><TD>14</TD><TD>S19T </TD><TD>M</TD><TD>56</TD><TD>G</TD><TD>C</TD><TD>[10]</TD></TR><TR><TD>15</TD><TD>I20T </TD><TD>M</TD><TD>59</TD><TD>T</TD><TD>C</TD><TD>[13]</TD></TR><TR><TD>16</TD><TD>W24X </TD><TD>M</TD><TD>71</TD><TD>G</TD><TD>A</TD><TD>[14]</TD></TR><TR><TD>17</TD><TD>V27I </TD><TD>M</TD><TD>79</TD><TD>G</TD><TD>A</TD><TD>[15]</TD></TR><TR><TD>18</TD><TD>R32C </TD><TD>M</TD><TD>94</TD><TD>C</TD><TD>T</TD><TD>[16]</TD></TR><TR><TD>19</TD><TD>R32H </TD><TD>M</TD><TD>95</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>20</TD><TD>R32L </TD><TD>M</TD><TD>95</TD><TD>G</TD><TD>T</TD><TD>[18]</TD></TR><TR><TD>21</TD><TD>V37I </TD><TD>M</TD><TD>109</TD><TD>G</TD><TD>A</TD><TD>[19]</TD></TR><TR><TD>22</TD><TD>A40G </TD><TD>M</TD><TD>119</TD><TD>C</TD><TD>G</TD><TD>[20]</TD></TR><TR><TD>23</TD><TD>A40E </TD><TD>M</TD><TD>119</TD><TD>C</TD><TD>A</TD><TD>[21]</TD></TR><TR><TD>24</TD><TD>W44X </TD><TD>M</TD><TD>132</TD><TD>G</TD><TD>A</TD><TD>[22]</TD></TR><TR><TD>25</TD><TD>G45E </TD><TD>M</TD><TD>134</TD><TD>G</TD><TD>A</TD><TD>[23]</TD></TR><TR><TD>26</TD><TD>E47K </TD><TD>M</TD><TD>139</TD><TD>G</TD><TD>A</TD><TD>[24]</TD></TR><TR><TD>27</TD><TD>E47X </TD><TD>M</TD><TD>139</TD><TD>G</TD><TD>T</TD><TD>[25]</TD></TR><TR><TD>28</TD><TD>167delT </TD><TD>D</TD><TD>167</TD><TD>T</TD><TD></TD><TD>[26]</TD></TR><TR><TD>29</TD><TD>167delT </TD><TD>D</TD><TD>167</TD><TD>T</TD><TD></TD><TD>[6]</TD></TR><TR><TD>30</TD><TD>Q57X </TD><TD>M</TD><TD>169</TD><TD>C</TD><TD>T</TD><TD>[27]</TD></TR><TR><TD>31</TD><TD>176_191del16 </TD><TD>D</TD><TD>176_191</TD><TD>GCTGCAAGAACGTGTG</TD><TD></TD><TD>[28]</TD></TR><TR><TD>32</TD><TD>176_191del16 </TD><TD>D</TD><TD>176_191</TD><TD>GCTGCAAGAACGTGTG</TD><TD></TD><TD>[19]</TD></TR><TR><TD>33</TD><TD>C64X </TD><TD>M</TD><TD>192</TD><TD>C</TD><TD>A</TD><TD>[20]</TD></TR><TR><TD>34</TD><TD>Y65X </TD><TD>M</TD><TD>195</TD><TD>C</TD><TD>A</TD><TD>[29]</TD></TR><TR><TD>35</TD><TD>Y65X </TD><TD>M</TD><TD>195</TD><TD>C</TD><TD>G</TD><TD>[2]</TD></TR><TR><TD>36</TD><TD>W77R </TD><TD>M</TD><TD>229</TD><TD>T</TD><TD>C</TD><TD>[30]</TD></TR><TR><TD>37</TD><TD>W77X </TD><TD>M</TD><TD>231</TD><TD>G</TD><TD>A</TD><TD>[31]</TD></TR><TR><TD>38</TD><TD>234delC </TD><TD>D</TD><TD>234</TD><TD>C</TD><TD></TD><TD>[23]</TD></TR><TR><TD>39</TD><TD>235delC </TD><TD>D</TD><TD>235</TD><TD>C</TD><TD></TD><TD>[32]</TD></TR><TR><TD>40</TD><TD>235delC </TD><TD>D</TD><TD>235</TD><TD>C</TD><TD></TD><TD>[9]</TD></TR><TR><TD>41</TD><TD>L79P </TD><TD>M</TD><TD>236</TD><TD>T</TD><TD>C</TD><TD>[33]</TD></TR><TR><TD>42</TD><TD>Q80X </TD><TD>M</TD><TD>238</TD><TD>C</TD><TD>T</TD><TD>[20]</TD></TR><TR><TD>43</TD><TD>Q80K </TD><TD>M</TD><TD>238</TD><TD>C</TD><TD>A</TD><TD>[34]</TD></TR><TR><TD>44</TD><TD>Q80P </TD><TD>M</TD><TD>239</TD><TD>A</TD><TD>C</TD><TD>[35]</TD></TR><TR><TD>45</TD><TD>Q80L </TD><TD>M</TD><TD>239</TD><TD>A</TD><TD>T</TD><TD>[36]</TD></TR><TR><TD>46</TD><TD>Q80R </TD><TD>M</TD><TD>239</TD><TD>A</TD><TD>G</TD><TD>[37]</TD></TR><TR><TD>47</TD><TD>I82M </TD><TD>M</TD><TD>246</TD><TD>C</TD><TD>G</TD><TD>[38]</TD></TR><TR><TD>48</TD><TD>V84L </TD><TD>M</TD><TD>250</TD><TD>G</TD><TD>C</TD><TD>[39]</TD></TR><TR><TD>49</TD><TD>S85P </TD><TD>M</TD><TD>253</TD><TD>T</TD><TD>C</TD><TD>[40]</TD></TR><TR><TD>50</TD><TD>A88S </TD><TD>M</TD><TD>262</TD><TD>G</TD><TD>T</TD><TD>[41]</TD></TR><TR><TD>51</TD><TD>L90V </TD><TD>M</TD><TD>268</TD><TD>C</TD><TD>G</TD><TD>[42]</TD></TR><TR><TD>52</TD><TD>269_270insT </TD><TD>I</TD><TD>269_270</TD><TD>TA</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>53</TD><TD>L90P </TD><TD>M</TD><TD>269</TD><TD>T</TD><TD>C</TD><TD>[1]</TD></TR><TR><TD>54</TD><TD>M93I </TD><TD>M</TD><TD>279</TD><TD>G</TD><TD>A</TD><TD>[43]</TD></TR><TR><TD>55</TD><TD>V95M </TD><TD>M</TD><TD>283</TD><TD>G</TD><TD>A</TD><TD>[39]</TD></TR><TR><TD>56</TD><TD>290_291insA </TD><TD>I</TD><TD>290_291</TD><TD>AC</TD><TD>A</TD><TD>[44]</TD></TR><TR><TD>57</TD><TD>R98Q </TD><TD>M</TD><TD>293</TD><TD>G</TD><TD>A</TD><TD>[22]</TD></TR><TR><TD>58</TD><TD>H100Y </TD><TD>M</TD><TD>298</TD><TD>C</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>59</TD><TD>299_300delAT </TD><TD>D</TD><TD>299_300</TD><TD>AT</TD><TD></TD><TD>[45]</TD></TR><TR><TD>60</TD><TD>299_300delAT </TD><TD>D</TD><TD>299_300</TD><TD>AT</TD><TD></TD><TD>[19]</TD></TR><TR><TD>61</TD><TD>H100L </TD><TD>M</TD><TD>299</TD><TD>A</TD><TD>T</TD><TD>[20]</TD></TR><TR><TD>62</TD><TD>301_303delGAG </TD><TD>D</TD><TD>301_303</TD><TD>GAG</TD><TD></TD><TD>[46]</TD></TR><TR><TD>63</TD><TD>302_304delAGA </TD><TD>D</TD><TD>302_304</TD><TD>AGA</TD><TD></TD><TD>[47]</TD></TR><TR><TD>64</TD><TD>E101G </TD><TD>M</TD><TD>302</TD><TD>A</TD><TD>G</TD><TD>[48]</TD></TR><TR><TD>65</TD><TD>310_323del14 </TD><TD>D</TD><TD>310_323</TD><TD>AGGAAGTTCATCAA</TD><TD></TD><TD>[25]</TD></TR><TR><TD>66</TD><TD>312_325del14 </TD><TD>D</TD><TD>312_325</TD><TD>GAAGTTCATCAAGG</TD><TD></TD><TD>[1]</TD></TR><TR><TD>67</TD><TD>314_327del14 </TD><TD>D</TD><TD>314_327</TD><TD>AGTTCATCAAGGGG</TD><TD></TD><TD>[39]</TD></TR><TR><TD>68</TD><TD>329delA </TD><TD>D</TD><TD>329</TD><TD>A</TD><TD></TD><TD>[36]</TD></TR><TR><TD>69</TD><TD>333_334delAA </TD><TD>D</TD><TD>333_334</TD><TD>AA</TD><TD></TD><TD>[49]</TD></TR><TR><TD>70</TD><TD>334_335delAA </TD><TD>D</TD><TD>334_335</TD><TD>AA</TD><TD></TD><TD>[39]</TD></TR><TR><TD>71</TD><TD>S113R </TD><TD>M</TD><TD>339</TD><TD>T</TD><TD>G</TD><TD>[39]</TD></TR><TR><TD>72</TD><TD>E114X </TD><TD>M</TD><TD>340</TD><TD>G</TD><TD>T</TD><TD>[10]</TD></TR><TR><TD>73</TD><TD>E114G </TD><TD>M</TD><TD>341</TD><TD>A</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>74</TD><TD>358_360delGAG </TD><TD>D</TD><TD>358_360</TD><TD>GAG</TD><TD></TD><TD>[50]</TD></TR><TR><TD>75</TD><TD>358_360delGAG </TD><TD>D</TD><TD>358_360</TD><TD>GAG</TD><TD></TD><TD>[5]</TD></TR><TR><TD>76</TD><TD>363delC </TD><TD>D</TD><TD>363</TD><TD>C</TD><TD></TD><TD>[36]</TD></TR><TR><TD>77</TD><TD>K122I </TD><TD>M</TD><TD>365</TD><TD>A</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>78</TD><TD>Q124X </TD><TD>M</TD><TD>370</TD><TD>C</TD><TD>T</TD><TD>[51]</TD></TR><TR><TD>79</TD><TD>374_375insAAGG </TD><TD>I</TD><TD>374_375</TD><TD>AG</TD><TD>AAGG</TD><TD>[20]</TD></TR><TR><TD>80</TD><TD>R127H </TD><TD>M</TD><TD>380</TD><TD>G</TD><TD>A</TD><TD>[52]</TD></TR><TR><TD>81</TD><TD>W133X </TD><TD>M</TD><TD>398</TD><TD>G</TD><TD>A</TD><TD>[20]</TD></TR><TR><TD>82</TD><TD>Y136X </TD><TD>M</TD><TD>408</TD><TD>C</TD><TD>A</TD><TD>[23]</TD></TR><TR><TD>83</TD><TD>S139N </TD><TD>M</TD><TD>416</TD><TD>G</TD><TD>A</TD><TD>[53]</TD></TR><TR><TD>84</TD><TD>R143W </TD><TD>M</TD><TD>427</TD><TD>C</TD><TD>T</TD><TD>[54]</TD></TR><TR><TD>85</TD><TD>E147X </TD><TD>M</TD><TD>439</TD><TD>G</TD><TD>T</TD><TD>[20]</TD></TR><TR><TD>86</TD><TD>E147K </TD><TD>M</TD><TD>439</TD><TD>G</TD><TD>A</TD><TD>[55]</TD></TR><TR><TD>87</TD><TD>A149T </TD><TD>M</TD><TD>445</TD><TD>G</TD><TD>A</TD><TD>[10]</TD></TR><TR><TD>88</TD><TD>R165W </TD><TD>M</TD><TD>493</TD><TD>C</TD><TD>T</TD><TD>[56]</TD></TR><TR><TD>89</TD><TD>K168R </TD><TD>M</TD><TD>503</TD><TD>A</TD><TD>G</TD><TD>[57]</TD></TR><TR><TD>90</TD><TD>504_505insAAGG </TD><TD>I</TD><TD>504_505</TD><TD>GT</TD><TD>AAGG</TD><TD>[58]</TD></TR><TR><TD>91</TD><TD>508_509insA </TD><TD>I</TD><TD>508_509</TD><TD>AA</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>92</TD><TD>509_522del14 </TD><TD>D</TD><TD>509_522</TD><TD>ACGCCTGGCCTTGT</TD><TD></TD><TD>[20]</TD></TR><TR><TD>93</TD><TD>515_531del17 </TD><TD>D</TD><TD>515_531</TD><TD>GGCCTTGTCCCAACACT</TD><TD></TD><TD>[20]</TD></TR><TR><TD>94</TD><TD>W172X </TD><TD>M</TD><TD>516</TD><TD>G</TD><TD>A</TD><TD>[59]</TD></TR><TR><TD>95</TD><TD>P173S </TD><TD>M</TD><TD>517</TD><TD>C</TD><TD>T</TD><TD>[34]</TD></TR><TR><TD>96</TD><TD>P173R </TD><TD>M</TD><TD>518</TD><TD>C</TD><TD>G</TD><TD>[10]</TD></TR><TR><TD>97</TD><TD>C174R </TD><TD>M</TD><TD>520</TD><TD>T</TD><TD>C</TD><TD>[20]</TD></TR><TR><TD>98</TD><TD>P175T </TD><TD>M</TD><TD>523</TD><TD>C</TD><TD>T</TD><TD>[50]</TD></TR><TR><TD>99</TD><TD>P175T </TD><TD>M</TD><TD>523</TD><TD>C</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>100</TD><TD>V178A </TD><TD>M</TD><TD>533</TD><TD>T</TD><TD>C</TD><TD>[33]</TD></TR><TR><TD>101</TD><TD>R184W </TD><TD>M</TD><TD>550</TD><TD>C</TD><TD>G</TD><TD>[60]</TD></TR><TR><TD>102</TD><TD>R184W </TD><TD>M</TD><TD>550</TD><TD>C</TD><TD>T</TD><TD>[61]</TD></TR><TR><TD>103</TD><TD>R184P </TD><TD>M</TD><TD>551</TD><TD>G</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>104</TD><TD>R184Q </TD><TD>M</TD><TD>551</TD><TD>G</TD><TD>A</TD><TD>[33]</TD></TR><TR><TD>105</TD><TD>572delT </TD><TD>D</TD><TD>572</TD><TD>T</TD><TD></TD><TD>[62]</TD></TR><TR><TD>106</TD><TD>A197S </TD><TD>M</TD><TD>589</TD><TD>G</TD><TD>T</TD><TD>[33]</TD></TR><TR><TD>107</TD><TD>S199F </TD><TD>M</TD><TD>596</TD><TD>C</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>108</TD><TD>608_609delinsAA </TD><TD>DI</TD><TD>608_609</TD><TD>TC</TD><TD>AA</TD><TD>[33]</TD></TR><TR><TD>109</TD><TD>L205P </TD><TD>M</TD><TD>614</TD><TD>T</TD><TD>C</TD><TD>[63]</TD></TR><TR><TD>110</TD><TD>N206S </TD><TD>M</TD><TD>617</TD><TD>A</TD><TD>G</TD><TD>[3]</TD></TR><TR><TD>111</TD><TD>631_632delTG </TD><TD>D</TD><TD>631_632</TD><TD>TG</TD><TD></TD><TD>[49]</TD></TR><TR><TD>112</TD><TD>631_632delTG </TD><TD>D</TD><TD>631_632</TD><TD>TG</TD><TD></TD><TD>[39]</TD></TR><TR><TD>113</TD><TD>C211X </TD><TD>M</TD><TD>633</TD><TD>T</TD><TD>A</TD><TD>[21]</TD></TR><TR><TD>114</TD><TD>L214P </TD><TD>M</TD><TD>641</TD><TD>T</TD><TD>C</TD><TD>[33]</TD></TR><TR><TD>115</TD><TD>645_648delTAGA </TD><TD>D</TD><TD>645_648</TD><TD>TAGA</TD><TD></TD><TD>[24]</TD></TR><TR><TD>116</TD><TD>645_648delTAGA </TD><TD>D</TD><TD>645_648</TD><TD>TAGA</TD><TD></TD><TD>[16]</TD></TR><TR><TD>117</TD><TD>K224Q </TD><TD>M</TD><TD>670</TD><TD>A</TD><TD>C</TD><TD>[64]</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].  Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defe</dd><dd>[2].  Connexin-26 mutations in sporadic and inherited sensorineural deafness.Lancet. 1998 Feb 7;351(9100):</dd><dd>[3].  Kenna et al 2001?other</dd><dd>[4].  Denoyelle et al 1997?other</dd><dd>[5].  Cx26 deafness: mutation analysis and clinical variability.J Med Genet. 1999 Nov;36(11):829-32.</dd><dd>[6].  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal re</dd><dd>[7].  Estivill et al 1998?other</dd><dd>[8].  Iliades et al. 2002?other</dd><dd>[9].  </dd><dd>[10].  Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.Hum Ge</dd><dd>[11].  Bradshaw et al, 2002 (PC)</dd><dd>[12].  The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearin</dd><dd>[13].  Loffler et al, 2001?other</dd><dd>[14].  Kelsell et al 1997?other</dd><dd>[15].  Pandya et al 2001</dd><dd>[16].  Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafne</dd><dd>[17].  Mustapha et al 2001?other</dd><dd>[18].  Yamuna et al. 2003 (PC)</dd><dd>[19].  Prevalent connexin 26 gene (GJB2) mutations in Japanese.J Med Genet. 2000 Jan;37(1):41-3.</dd><dd>[20].  Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a nove</dd><dd>[21].  Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic </dd><dd>[22].  Carrier rates in the midwestern United 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