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囊性纤维化的基因筛查

Genetic screening for cystic fibrosis.

作者信息

Davies Kevin

出版信息

Nature. 1992 Jun 6;357(6377):425.

Abstract

More than 98% of mutations causing cystic fibrosis can be detected in a Celtic population in Brittany, France. What, though, are the prospects for screening of entire populations for carriers?... Even if technology improves to the point where 95% of CF mutations can be detected routinely, and population screening becomes feasible, a more contentious matter is that of counselling and education, especially as there is every reason to believe that the lifespan of CF patients will continue to grow as therapies improve....

摘要

在法国布列塔尼的凯尔特人种群中,超过98%的导致囊性纤维化的突变能够被检测出来。然而,对全体人群进行携带者筛查的前景如何呢?……即便技术进步到能常规检测出95%的囊性纤维化突变,且人群筛查变得可行,但更具争议性的问题是咨询与教育方面的,尤其是鉴于有充分理由相信随着治疗方法的改进,囊性纤维化患者的寿命将会持续延长……

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