Using the Universal Mutation Database (UMD庐) software we have constructed UMD-CFTR (freely available at the URL: http://www.umd.be/CFTR/), the first comprehensive relational CFTR database that allows an in-depth analysis and annotation of all variations identified in individuals whose CFTR ...
(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 ...
Mutations/variations were 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 both brothers in association with 13TG and 12TG alleles(13TG-5T/12TG-5T), one of...
correlation with incidence data and application to screening Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane condu... JL Bobadilla,M Macek,JP Fine,... - 《Human Mutation》 被引量: 1543发表:...
方法 采用PCR技术结合DNA直接测序的方法检测2013年5月至2015年1月于中山大学附属第三医院诊断明确的11例先天性双侧输精管缺如汉族患者及50 名健康已生育汉族男性的CFTR基因5'端ATG上游3.8 kb的启动子区域的突变情况,并在NCBI和Cystic Fibrosis Mutation Database在线比对,利用Transfac在线预测及系统发生足迹法联合已经报道...
(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...
Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutatio...
Thirty-four patients (46.57%) had the 5T variant (6 homozygous and 28 heterozygous) and in two of them it was not associated with any detectable mutation of the CFTR gene. All potential pathogenic mutations are not contained in the 1000 Genome Project database. In total, the present study ...
MATERIALS AND METHODS Nomenclature of mutations For convenience to readers, we used legacy nomenclature as previously reported to the International Consortium Mutation Database (http://www.genet.sickkids. on.ca/cftr/). According to the Human Genome Variation Society nomenclature, the two described ...
MATERIALS AND METHODS Mutation nomenclature Nucleotide (cDNA) numbering is based on the CF mutation database (http:// www.genet.sickkids.on.ca/cftr) using +1 as the first nucleotide of the reference sequence (GenBank NM_000492.2). Mutation nomenclature according to international recommendations (...