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摘要:
Despite its apparently simple genetics,cystic fibrosis(CF)is a rather complex genetic disease.A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator(CFTR)gene to the clinical manifestations originates an uncertain genotype-phenotype relationship.A major determinant of this uncertainty is the incomplete knowledge of the CFTR mutated genotypes,due to the high number of CFTR mutations and to the higher number of their combinations in trans and in cis.Also the very limited knowledge of functional effects of CFTR mutated alleles severely impairs our diagnostic and prognostic ability.The final phenotypic modulation exerted by CFTR modifier genes and interactome further complicates the framework.The next generation sequencing approach is a rapid,lowcost and high-throughput tool that allows a near complete structural characterization of CFTR mutated genotypes,as well as of genotypes of several other genes cooperating to the final CF clinical manifestations.This powerful method perfectly complements the new personalized therapeutic approach for CF.Drugs active on specific CFTR mutational classes are already available for CF patients or are in phase 3 trials.A complete genetic characterization has been becoming crucial for a correct personalized therapy.However,the need of a functional classification of each CFTR mutation potently arises.Future big efforts towards an ever more detailed knowledge of both structural and functional CFTR defects,coupled to parallel personalized therapeutic interventions decisive for CF cure can be foreseen.
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篇名 new era of cystic fibrosis:Full mutational analysis and personalized therapy
来源期刊 世界医学遗传学杂志 学科 医学
关键词 GENOTYPE-PHENOTYPE relationship CFTR CYSTIC fibrosis Next generation sequencing FUNCTIONAL MEANING of mutations Personalized therapy MUTATION search MUTATION FUNCTIONAL classes
年,卷(期) 2017,(1) 所属期刊栏目
研究方向 页码范围 1-9
页数 9页 分类号 R
字数 语种
DOI
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研究主题发展历程
节点文献
GENOTYPE-PHENOTYPE
relationship
CFTR
CYSTIC
fibrosis
Next
generation
sequencing
FUNCTIONAL
MEANING
of
mutations
Personalized
therapy
MUTATION
search
MUTATION
FUNCTIONAL
classes
研究起点
研究来源
研究分支
研究去脉
引文网络交叉学科
相关学者/机构
期刊影响力
世界医学遗传学杂志
不定期
2220-3184
北京市朝阳区东四环中路62号楼远洋国际中
出版文献量(篇)
39
总下载数(次)
0
总被引数(次)
0
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