单基因遗传病： 新生儿瓜胺酸血症2型

<P>中文名称： 新生儿瓜胺酸血症2型</P><P>英文名称：Citrullinemia, Type Ii, Neonatal-Onset </P><P>OMIM号： 605814&nbsp;</P><P>所属系统：内分泌和代谢系统</P><P>遗传方式：AR</P><DIV class=hdwiki_tmml>疾病简介</DIV><P>瓜氨酸血症2型主要是影响神经系统。特征包括有精神错乱、异常的行径（如带有侵略性、过敏及过动）、癫痫及昏迷。</P><DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：SLC25A13&nbsp; <BR>参考序列：NM_014251 <BR>染色体位置：7q21.3 <BR></DIV><DIV><TABLE class=table><TBODY><TR><TD><P align=center>&nbsp;<strong>突变ID</strong></P></TD><TD><P align=center><strong>&nbsp;突变位点</strong></P></TD><TD><P align=center><strong>&nbsp;突变类型</strong></P></TD><TD><P align=center><strong>编码区位置&nbsp;</strong></P></TD><TD><P align=center><strong>&nbsp;野生型</strong></P></TD><TD><P align=center><strong>突变型&nbsp;</strong></P></TD><TD><P align=center><strong>&nbsp;参考文献</strong></P></TD></TR><TR><TD><P align=center>1</P></TD><TD><P align=center>IVS7-2A-G </P></TD><TD><P align=center>S</P></TD><TD><P align=center>IVS7 -2 A-G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>G</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>2</P></TD><TD><P align=center>IVS6+1G-A </P></TD><TD><P align=center>S</P></TD><TD><P align=center>IVS6 +1 G-A</P></TD><TD><P align=center>G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[2]</P></TD></TR><TR><TD><P align=center>3</P></TD><TD><P align=center>IVS6+5G-A </P></TD><TD><P align=center>S</P></TD><TD><P align=center>IVS6 +5 G-A</P></TD><TD><P align=center>G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[3]</P></TD></TR><TR><TD><P align=center>4</P></TD><TD><P align=center>R184X </P></TD><TD><P align=center>M</P></TD><TD><P align=center>550</P></TD><TD><P align=center>C</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[2]</P></TD></TR><TR><TD><P align=center>5</P></TD><TD><P align=center>S225X </P></TD><TD><P align=center>M</P></TD><TD><P align=center>674</P></TD><TD><P align=center>C</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[4]</P></TD></TR><TR><TD><P align=center>6</P></TD><TD><P align=center>851_854delGTAT </P></TD><TD><P align=center>D</P></TD><TD><P align=center>851_854</P></TD><TD><P align=center>GTAT</P></TD><TD><P align=center></P></TD><TD><P align=center>[5]</P></TD></TR><TR><TD><P align=center>7</P></TD><TD><P align=center>R319X </P></TD><TD><P align=center>M</P></TD><TD><P align=center>955</P></TD><TD><P align=center>C</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>8</P></TD><TD><P align=center>G333D </P></TD><TD><P align=center>M</P></TD><TD><P align=center>998</P></TD><TD><P align=center>G</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[6]</P></TD></TR><TR><TD><P align=center>9</P></TD><TD><P align=center>G386V </P></TD><TD><P align=center>M</P></TD><TD><P align=center>1157</P></TD><TD><P align=center>G</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>10</P></TD><TD><P align=center>1192delT </P></TD><TD><P align=center>D</P></TD><TD><P align=center>1192</P></TD><TD><P align=center>T</P></TD><TD><P align=center></P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>11</P></TD><TD><P align=center>K453R </P></TD><TD><P align=center>M</P></TD><TD><P align=center>1358</P></TD><TD><P align=center>A</P></TD><TD><P align=center>G</P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>12</P></TD><TD><P align=center>R467X </P></TD><TD><P align=center>M</P></TD><TD><P align=center>1399</P></TD><TD><P align=center>C</P></TD><TD><P align=center>T</P></TD><TD><P align=center>[7]</P></TD></TR><TR><TD><P align=center>13</P></TD><TD><P align=center>A541D </P></TD><TD><P align=center>M</P></TD><TD><P align=center>1622</P></TD><TD><P align=center>C</P></TD><TD><P align=center>A</P></TD><TD><P align=center>[1]</P></TD></TR><TR><TD><P align=center>14</P></TD><TD><P align=center>1660_1661in23 </P></TD><TD><P align=center>I</P></TD><TD><P align=center>1660_1661</P></TD><TD><P align=center>GC</P></TD><TD><P align=center>GAGATTACAG</P></TD><TD><P align=center>[4]</P></TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV><P>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></P><div><dl class=reference><dt>参考资料</dt><dd><span>[1].</span>&nbsp;&nbsp;Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic chol</dd><dd><span>[2].</span>&nbsp;&nbsp;SLC25A13 gene mutations in Chinese infants with intrahepatic cholestasis and abnormal blood amino ac</dd><dd><span>[3].</span>&nbsp;&nbsp;Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwa</dd><dd><span>[4].</span>&nbsp;&nbsp;Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants</dd><dd><span>[5].</span>&nbsp;&nbsp;A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficienc</dd><dd><span>[6].</span>&nbsp;&nbsp;Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation</dd><dd><span>[7].</span>&nbsp;&nbsp;Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal i</dd></dl></div>