遗传疾病：噪声如何与之相关。

Genetic diseases: How the noise fits in.

作者信息

Levchenko Andre

机构信息

Biomedical Engineering Department, Yale Systems Biology Institute, Yale University, New Haven, CT 06520, USA.

出版信息

Curr Biol. 2023 Mar 27;33(6):R228-R230. doi: 10.1016/j.cub.2023.02.052.

DOI:10.1016/j.cub.2023.02.052

PMID:36977385

Abstract

Many disease-causing mutations can have mild or no effects in some people. This incomplete phenotype penetrance phenomenon is still poorly understood, but model animal studies now show that it is stochastic, with the outcome akin to flipping a coin. These findings can affect how genetic diseases are understood and treated.

摘要

许多致病突变在某些人身上可能只有轻微影响或没有影响。这种不完全表型外显现象目前仍了解不足，但现在模型动物研究表明，这是随机的，其结果类似于抛硬币。这些发现可能会影响人们对遗传疾病的理解和治疗方式。