因不同的突变类型和突变位点,可导致CF表型的多样性,包括典型的CF,轻微的肺部疾病,特发性慢性胰腺炎,哮喘,鼻窦炎,及CBAVD等等。 临床研究发现,CBAVD的病人多表现为CFTR的复合杂合突变,并且至少有一个突变表现为部分功能丧失的突变(mild mutation)。 在没有CFTR基因突变的先天性双侧输精管缺如的情况下,致病原因通常是...
将Elexacaftor与Tezacaftor/Ivacaftor结合,有助于CFTR蛋白在更多的CF患者中的表现优于其他调节剂,因为Elexacaftor纠正了F508del-CFTR蛋白形成中的额外缺陷。ETI已获批用于CFTR基因中至少有一个F508del突变拷贝或177个特定突变中至少有一个拷贝的6岁及以上的CF患者。[5] PROMISE研究是一项对487例开始接受ETI治疗的CF患者...
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing...
Regional analyses were also performed to search for trends in the distribution of CFTR mutations across migrant and related populations; this led to clarification of ancestry-genotype patterns that can be used to design CFTR multi-mutation panels for CF screening programs. From comprehensive assessment...
mutation)分别计算; [0145]②对每个肿瘤变异位点的评估基于与其突变等位基因频率(variant allel frequency,VAF)相关的两个方面:Fisher’s精确检验肿瘤某位点VAF是否明显高于匹配正 常样本中的相应位点;肿瘤某位点VAF是否显著高于具有体细胞突变的一般基因群体的特 征VAF(即突变“背景”,详见④); [0146]③将②中结果汇...
the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefS...
Itisnotpracticaltotestforallknownmutations,becausemanyhaveaverylowprevalenceinaparticularpopulation.Routinetestingisusuallyrestrictedtothemostcommonmutationsinaparticularcommunitythroughtheanalysisofamutationpanel……Ifthefemalepartnerisnegativeforknownmutations,theriskofbeingacarrierofunknownmutationsis~0.4% ——EAU...
(primers# 1–28) listed in Supplementary Table1. The CFTR2 database (https://www.cftr2.org) was referred to design the oligonucleotides. PCR fragment containing the mutation L441P, A455E, M470V, S492F, I507del, F508del, or V520F was subcloned into PstI and SphI sites of pSP64...
Our data suggest however that F-508 is not the most common CF mutation in Chilean patients. F-508 and R-553X account for only 33.4% of the 展开 DOI: 10.1007/BF00208286 被引量: 61 年份: 1994 收藏 引用 批量引用 报错 分享 全部来源 免费下载 求助全文 EureKaMag.com (全网免费下载)...
ResultsHomozygous 5T mutation at the splicing site ahead of exon 10 of the CFTR gene was identified in both brothers in association with 13TG and 12TG alleles(13TG-5T/12TG-5T), one of those was inherited from the mother(13TG-5T/11TG-7T), the other was from the father(12TG-5T/12...