12.Santos L, Mention K, Cavusoglu-Doran K, Sanz DJ, Bacalhau M, Lopes-Pacheco M, Harrison PT, Farinha CM. Comparison of Cas9 and Cas12a CRISPR editing methods to correct the W1282X-CFTR mutation. J Cyst Fibros. 2022 Jan;21(1):181-187. doi: 10.1016/j.jcf.2021.05.014. Epub 2021 ...
This mutation, among others, leads to a class II mutation of cystic fibrosis. The misfolded CFTR is either not transported to the surface of the membrane or is only transported in residual amounts, preventing the regulation of mucus consistency and causes cystic fibrosis. The mechanism of the ...
(PCR)and subsequently studied with Sanger sequencing.Mutations/variationswere identified and compared with the control sequence searched in the NCBI database.ResultsHomozygous 5T mutation at the splicing site ahead of exon 10 of the CFTR gene was identified in bothbrothers in association with 13TG ...
F508del CFTR trafficking54,55. We specifically focused on a proline substitution at residue Ser492 (S492P), which is predicted to increase rigidity between the N-terminal and the α-helical subdomains56, and a well-known suppressor mutation I539T57, which increases thermal stability of F508del...
Inherited diseases are genetically passed down from parent to child through abnormalities in the genome. These abnormalities can be a single-gene mutation or a host of complex mutations that combine with environmental factors to cause the disease. ...
Genetic study of this family supports that homozygous 5T mutation is associated with CBAVD. Individuals with homozygous 5T alleles are 20 times more possible to transmit this deleterious variant to the next generation than general population. ConclusionsThis family we analysed agrees with the previous ...
参考文献[1]RadpourR,GourabiH,DizajAV,eta1.GeneticinvestigationsofCFTRmutationsincongenitalabsenceofvasdeferens,uterus,andvaginaasacauseofinfertility[J].JAndrol,2008,29:506—513.[2]CastellaniC,CuppensH,MacekMJr,eta1.Consensusontheuseandinterpretationofcysticfibrosismutationanalysisinclinicalpractice[J].JC...
Efficient Gene Editing at Major CFTR Mutation LociCystic fibrosis (CF) is a lethal autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nuclease-mediated precise gene editing (PGE) represents a promising therapy for CF, for which an ...
轻表型:单侧输精管缺如重表型:囊性纤维化CFTR两大著名热点:F508del(强)、5T(弱)DeSouzaDA,etal.Andrology,2018,6(1):127-135.Itisnotpracticaltotestforallknownmutations,becausemanyhaveaverylowprevalenceinaparticularpopulation.Routinetestingisusuallyrestrictedtothemostcommonmutationsinaparticularcommunitythrough...
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,致病原因通常是未知的。有些病例可能与泌尿道的其他结构问题有关,如肾畸形。 临床表现 ...