Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Zielenski, Julian; Rozmahel, Richard; Bozon, Dominique; Kerem, Bat Sheva; Grzelczak, Zbyszko; Riordan, John R.; Rommens, Johanna M.; Tsui, Lap Chee

doi:10.1016/0888-7543(91)90503-7

Cited by 483 publications

(291 citation statements)

References 21 publications

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“…PCR and sequencing primers were either made as described previously 18 or designed with the Primer 3 software (Geeknet Inc., Fairfax, VA, USA). The presence of the CFTRdele2,3 mutation was determined according to Dörk et al 19 …”

Section: Dna Analysismentioning

confidence: 99%

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska¹,

Ołtarzewski²,

Czerska³

et al. 2012

Eur J Hum Genet

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Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1 212 487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.

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Section: Dna Analysismentioning

confidence: 99%

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Sobczyńska-Tomaszewska¹,

Ołtarzewski²,

Czerska³

et al. 2012

Eur J Hum Genet

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“…The cDNA sequence of CFTR was determined in 1991 along with the locations of intron/exon boundaries (Zielenski et al 1991).…”

Section: Cftr Gene Structure and Organisationmentioning

confidence: 99%

The Phenotypic Consequences of CFTR Mutations

Rowntree¹,

Harris²

2003

Annals of Human Genetics

299

215

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SummaryCystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype and CF disease phenotype; however, this relationship is still not well understood. A connection between CFTR genotype and disease manifested in the pancreas has been well described, but pulmonary disease appears to be highly variable even between individuals with the same genotype. This review describes the current classification of CFTR mutation classes and resulting CF disease phenotypes. Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.

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“…Exon 9 was first amplified using primers 9i5/9i3 described by Zielenski et al 18 and purified according to the manufacturer's recommendations by QIAquick PCR purification kit (Qiagen, Hilden, Germany) to remove the …”

Section: New Protocol For Haplotyping Ivs8-(tg)mtn Repeatsmentioning

confidence: 99%

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Bareil

Guittard

Altiéri

et al. 2007

The Journal of Molecular Diagnostics

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Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is needed for the diagnosis of patients with cystic fibrosis or CFTR-related disorders (including congenital bilateral absence of the vas deferens) bearing rare mutations. Standard strategies for detecting point mutations rely on extensive scanning of the gene by denaturing gradient gel electrophoresis or denaturing high performance liquid chromatography, which are time-consuming. Moreover, the haplotyping of IVS8-(TG)m and Tn tracts is still challenging despite several recent improvements. We have optimized both the detection of mutations and the haplotyping of IVS8 polyvariants in developing two methods: i) a rapid and robust direct sequence analysis of all exons/flanking introns of the CFTR gene based on single condition touchdown amplification/sequencing in 96-well plates, and ii) a fluorescent assay that allows haplotyping of IVS8-(TG)mTn even without family linkage study. Combined with search for rare large rearrangements, this strategy detected 87.9% of CFTR defects in congenital bilateral absence of the vas deferens patients, a proportion considerably higher than those usually reported. These highly efficient tests, scanning each sample in a few days, greatly improve the genotyping of patients with CFTR-related symptoms and may be particularly important in emergency situations such as fetus with hyperechogenic bowel suggestive of cystic fibrosis. (J Mol Diagn 2007, 9:582-588;

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Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Cited by 483 publications

References 21 publications

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

The Phenotypic Consequences of CFTR Mutations

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

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