This genetic disease of autosomal recessive inheritance is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is diagnosed by elevated electrolyte concentrations in sweat, reduced ion permeability of upper respiratory epithelium, and impaired luminal ion secretion...
过早终止密码子(Premature Termination Codons, PTCs)是在编码序列中由于碱基突变引发的非正常终止信号,导致翻译过程提前结束,生成截短的、功能丧失的蛋白质。大约10%到20%的遗传性疾病与PTCs相关,这类突变还在肿瘤抑制基因的失活中起着关键作用。例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Mu...
例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Muscular Dystrophy)中,PTCs都与疾病的发病机制息息相关。此外,PTCs不仅导致不完全蛋白质的合成,还通过无义介导的mRNA降解(nonsense-mediated mRNA decay, NMD)进一步减少截短蛋白质的产生,从而加剧疾病的症状。 现今的研究表明,通过翻译贯通(translat...
过早终止密码子(Premature Termination Codons, PTCs)是在编码序列中由于碱基突变引发的非正常终止信号,导致翻译过程提前结束,生成截短的、功能丧失的蛋白质。大约10%到20%的遗传性疾病与PTCs相关,这类突变还在肿瘤抑制基因的失活中起着关键作用。例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Mu...
Cystic fibrosisGenetic modifiersLinkageGenetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the ...
过早终止密码子(Premature Termination Codons, PTCs)是在编码序列中由于碱基突变引发的非正常终止信号,导致翻译过程提前结束,生成截短的、功能丧失的蛋白质。大约10%到20%的遗传性疾病与PTCs相关,这类突变还在肿瘤抑制基因的失活中起着关键作用。例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Mu...
The identification of the cystic fibrosis (CF) gene and within that gene the most frequent mutation is of major importance. The genotype/phenotype relationships in large study populations give a better insight in the clinical variability of CF. Variability between different CF patients is also detect...
Abstract Cystic fibrosis (CF) is a genetically inherited and potentially fatal disease. In the Western world, 1 in 23 people carry the defective gene. This article outlines the genetics of CF and its mode of inheritance and examines what types of carrier screening are available. The carrier fre...
Link between genetics and the cystic fibrosis disorder also known as mucoviscidosis,站酷海洛,一站式正版视觉内容平台,站酷旗下品牌.授权内容包含正版商业图片、艺术插画、矢量、视频、音乐素材、字体等,已先后为阿里巴巴、京东、亚马逊、小米、联想、奥美、盛世长城
The article examines the immediate implications of the cloning of the cystic fibrosis (CF) gene, and in particular on the possibilities that arise for improved diagnosis, prenatal diagnosis and population heterozygote screening. The CF gene spans 25 kilobases of genomic deoxyribonucleic acid and contain...