神马文学网『双语新知』：科学家发现口吃基因
来源：百度文库 编辑：神马文学网 时间：2024/04/29 20:52:24
英文版来源：BBC新闻
Stammering has long been recognised to run in families, but scientists now say they have identified three genes which may cause the problem in some people. They believe that mutations which have already been tied to metabolic disorders may also affect the way in which parts of the brain function.
口吃一直被认为是家族遗传疾病，科学家终于找到了三种可能造成某些人出现口吃的基因。他们相信已知与某些代谢疾病有关的突变基因也同样可能影响部分大脑运作。Stammering affects about 1% of all adults worldwide. Those affected repeat or prolong sounds, syllables or words, disrupting the normal flow of speech. With early intervention children who stammer can overcome the problem, while for adults therapies are based on reducing anxiety and regulating breathing to improve speech. But the team from the National Institute on Deafness and Other Communication Disorders（NIDCD）hopes its discovery may pave the way for new treatments.
口吃影响着全世界1%的成年人口。口吃患者会重复或延长声音、音节或字词，影响正常表达。出现症状的儿童如果第一时间接受治疗，有矫正可能。而成人则只能通过减少紧张、调节呼吸来改善说话等。但全国失聪及其他沟通障碍研究所的专家们认为，这一发现可能为新的疗法打开一扇门。Nearly one in ten of the sufferers examined were found to have a mutation in one of three genes.
接受检验的口吃患者之中，几乎每十个中就有一个出现三种基因中有一种变异的情况。Two of these, GNPTAB and GNPTG, have already been linked to two serious metabolic diseases in which components of cells are not effectively recycled. People with this defective gene need two copies to develop the metabolic disorder, but one copy appears to be associated with stammering.
3种基因中，GNPTAB与GNPTG两种，已知会造成细胞元件不能有效循环的两种严重代谢疾病。有两对这种缺陷基因的人会发展出代谢疾病，但如果只有一对，似乎就会造成口吃。A third defective gene, which is closely related to the other two, was also found among stammerers but not among the controls.
而第三种有缺陷的基因，与另外两种密切相关，也能在口吃患者身上发现，但是对照组身上就没有。