《自然》杂志今天凌晨在线发表重要研究成果 《natural》Magazine published online today at an important research results

浙大团队发现儿童失明新基因 Zhejiang university team found that children's blindness new genes

　　今天凌晨，遗传学领域的世界顶级刊物《自然·遗传学》，在线发表了一项重要研究成果——科学家发现了导致遗传性儿童失明的一个新基因。

This morning，The field of genetics of the world's top publications《Nature · genetics》，Online issued a important results-the scientists found that the cause genetic blindness in children a new gene。

　　巧的是，这项研究成果，由全世界的四个团队分别独立完成，不约而同地投稿到了《自然·遗传学》杂志。其中有一支团队的带头人，是浙江大学医学院的祁鸣教授。

Skillful is，The results of this research，The four teams from all around the world were independently，To contribute to one《Nature · genetics》magazine。Among them are a team leader，Zhejiang university medical school professor QiMing。

　　前天，记者到浙江大学医学部，专访了祁鸣教授。

The day before yesterday，The reporter to zhejiang university health science，Interview with QiMing professor。

　　祁鸣解析说：儿童先天性失明，在医学术语上叫做莱伯氏先天性黑蒙症(以下简称LCA)。这是一种幼年期发病的常染色体遗传性视网膜病变。患有这种失明症的病例，一般在婴儿新生早期就能看出异常来。一直以来，医学界都认可，LCA的患者中，70%的病例，是由17个先前已经发现的LCA致病基因中的某一个突变导致的，但其余30%病例的遗传病因尚未知晓。

QiMing analytical said：Children born blind，In medical terms, is called the burt's congenital black with disease(Hereinafter referred to as LCA)。This is a kind of infancy onset autosomal hereditary retinopathy。With the ShiMingZheng cases，General in the new baby early can see exceptions to。Has been，Have been recognized by the medical profession，In patients with LCA，70% of cases，By 17 has previously found LCA virulence genes of one of the mutation，But the other 30% of cases genetic causes is unknown。

　　几年前，祁鸣在美国的同行好友John Chinag接触到一个在30%比例之中的典型病例。当医生筛查了病人的17个已知的LCA致病基因后，却没有发现异常。那么是否可以猜想17个已知基因之外，还有一个或更多的未知遗传基因在起作用呢？于是，祁鸣教授带领研究团队，通过一种新的技术——“全外显子高通量测序”，再次全面检查了该病人身上所有的基因。很幸运，研究团队从数万个变异中发现10个“无义突变”。

A few years ago，QiMing counterpart in the USA friend John Chinag contact to a in the 30% of the typical case。When the doctor screening the patient's 17 known LCA virulence genes，But found no abnormalities。So whether can guess 17 known genes away，And one or more of the unknown genetic at work here？so，Professor QiMing led research team，Through a new technology--“The explicit son high-throughput sequencing”，Again the thorough examination of the patient all genes。lucky，Research team from tens of thousands of variations found 10“No righteous mutations”。

什么是“无义突变”？ What is“No righteous mutations”？

　　比如火车原本从杭州到上海的，但行程到中途的嘉兴站突然终止了，火车再也不走了，那么这段既定旅程就出了问题，可视为一种“无义突变”行为。

Such as the train to Shanghai from hangzhou originally，But the trip to the middle of the jiaxing stood abruptly terminated，The train never to go，So this period of established a journey，Can be seen as a kind of“No righteous mutations”behavior。

　　这十个“无义突变”的基因所生产的蛋白质分子是不完整的，它们都可能是导致LCA发生的“坏蛋”。因为该病是常染色体遗传，即从父母双方遗传来的两个基因拷贝都应该有缺陷。

The ten“No righteous mutations”Genes by the production of proteins is incomplete，They may be led to happen LCA“bad”。Because the disease is often chromosome genetic，That is, from both parents to two of the genetic gene copies should have defects。

　　寻踪问其迹，他们发现了其中一个称为“NMNAT1”的基因，它带着两种突变，是真正导致LCA的“罪魁祸首”。研究团队在之后的检测中，同样发现了这个规律。

Pursuit asked its mark，They found the one called“NMNAT1”genes，It took two kinds of mutations，Is the real cause of LCA“The culprit”。Research team in the detection of after，Also found this rule。

　　其实，“NMNAT1”这个基因，对科学家们来说并不陌生。但原本人们对它的认识停留在对人体的其他器官的影响上。比如，它是在人类神经细胞、心脏、肾脏和肝脏组织发挥作用的基因。而祁鸣团队的这一新发现表示：LCA的患儿有部分是由于这个基因致病的，那么这些患儿的神经、心脏等组织、脏器也可能受到影响。

In fact，“NMNAT1”The gene，Is not strange to scientists。But instead of the knowledge of it stay on the influence of other organs of the human body。For example，It is the human nerve cells、heart、Kidney and liver tissue function of the gene。And QiMing team of the new discovery said：Children have LCA is due in part to the gene of the disease，So these children's nerves、Organizations, such as heart、Viscera may also be affected。

　　让人欣喜的是，目前在浙大附属妇产科医院，已经可以对孕妇做“NMNAT1”基因是否突变的产检。

Let people delight，Currently in zhejiang university hospital，Have to pregnant women can do“NMNAT1”Gene mutations in whether the check。

　　那么除了通过检测加强预防之外，对于已经患有“NMNAT1”基因缺陷的失明患儿来说，有没有治疗的方案？

So in addition to enhancing prevention through testing outside，To have“NMNAT1”Gene defect of the blind for children，Have the treatment plan？

　　“有，而且是用基因治疗基因。”祁鸣非常肯定地说。他曾经在美国观摩过一台基因治疗手术，医生使用一种带着激光追踪灯的软针，插入眼疾患者的眼球，让针顺着眼角膜，“走”到视网膜的位置，将好的基因注入眼睛，使得病人体内重新拥有健康活力的基因，最终控制器官正常发育、正常运作。

“have，And it is with gene therapy genes。”QiMing very sure said。He has been in the United States attended a gene therapy surgery，Doctors used a laser tracking lamp with a soft needle，Insert the eye disease patients' eye，Let down the needle cornea，“go”To the position of the retina，Will good gene into the eyes，Allow the patient to have healthy body energy of the gene，Final control organs normal development、Normal operation。

　　目前全世界已经成功开展了十几例这样的基因治疗手术。祁鸣说，预期未来三年内，中国也可以采用类似的基因治疗手段，治疗这类先天性失明。(记者 章咪佳/文 本报通讯员 单泠/摄)

The whole world has been successfully carried out more than ten cases of this gene therapy surgery。QiMing said，The expected future three years，China also can use a similar gene therapy，Treatment for this kind of congenital blindness。(The reporter is, this chapter mi/correspondent single ling/perturbation)