Cystic fibrosis mutation frequencies in an Irish population

Devaney, James; Glennon, M.; Farrell, Gillian; Ruttledge, Martin; Smith, Terry J.; Houghton, JA; Maher, Majella

doi:10.1034/j.1399-0004.2003.00017.x

Cited by 17 publications

(9 citation statements)

References 29 publications

(40 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The geographical distribution of the p.F508del shows a decreasing frequency from the Northwest to the Southeast of Europe [13,24,29,31,33,34]. The Islamic Republic of Iran is located to the Southeast of Turkey, and based on this gradient, the observed lower frequency of the p.F508del is in agreement with this observation.…”

Section: Discussionsupporting

confidence: 90%

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Alibakhshi

Kianishirazi

Cassiman

et al. 2008

Journal of Cystic Fibrosis

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 90%

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Alibakhshi

Kianishirazi

Cassiman

et al. 2008

Journal of Cystic Fibrosis

View full text Add to dashboard Cite

show abstract

“…It has a prevalence of 1/1,461 births in the Irish population [1]. Most patients die of progressive respiratory failure with chronic infections.…”

Section: Introductionmentioning

confidence: 99%

Hyperpolarized 3helium magnetic resonance ventilation imaging of the lung in cystic fibrosis: comparison with high resolution CT and spirometry

et al. 2006

View full text Add to dashboard Cite

The purpose of this study was to compare hyperpolarized 3helium magnetic resonance imaging (3He MRI) of the lungs in adults with cystic fibrosis (CF) with high-resolution computed tomography (HRCT) and spirometry. Eight patients with stable CF prospectively underwent 3He MRI, HRCT, and spirometry within 1 week. Three-dimensional (3D) gradient-echo sequence was used during an 18-s breath-hold following inhalation of hyperpolarized 3He. Each lung was divided into six zones; 3He MRI was scored as percentage ventilation per lung zone. HRCT was scored using a modified Bhalla scoring system. Univariate (Spearman rank) and multivariate correlations were performed between 3He MRI, HRCT, and spirometry. Results are expressed as mean+/-SD (range). Spirometry is expressed as percent predicted. There were four men and four women, mean age = 31.9+/-9 (20-46). Mean forced expiratory volume in 1 s (FEV)1 = 52%+/-29 (27-93). Mean 3He MRI score = 74%+/-25 (55-100). Mean HRCT score = 48.8+/-24 (13.5-83). The correlation between 3He MRI and HRCT was strong (R = +/-0.89, p < 0.001). Bronchiectasis was the only independent predictor of 3He MRI; 3He MRI correlated better with FEV1 and forced vital capacity (FVC) (R = 0.86 and 0.93, p < 0.01, respectively) than HRCT (R = +/-0.72 and +/-0.81, p < 0.05, respectively). This study showed that 3He MRI correlates strongly with structural HRCT abnormalities and is a stronger correlate of spirometry than HRCT in CF.

show abstract

“…We investigated the factor V gene in selected pregnant women with APCR for novel SNPs using GMPD, a novel mutation detection technology [22]. We determined the frequencies of adverse pregnancy outcomes in subjects with APCR based on the Classic Coatest ® test only and in the group with APCR based on the Modified Coatest ® test.…”

Section: Introductionmentioning

confidence: 99%

APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

Sedano-Balbás

Lyons

Cleary

et al. 2010

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

BackgroundActivated Protein C Resistance (APCR), a poor anticoagulant response of APC in haemostasis, is the commonest heritable thrombophilia. Adverse outcomes during pregnancy have been linked to APCR. This study determined the frequency of APCR, factor V gene known and novel SNPs and adverse outcomes in a group of pregnant women.MethodsBlood samples collected from 907 pregnant women were tested using the Coatest® Classic and Modified functional haematological tests to establish the frequency of APCR. PCR-Restriction Enzyme Analysis (PCR-REA), PCR-DNA probe hybridisation analysis and DNA sequencing were used for molecular screening of known mutations in the factor V gene in subjects determined to have APCR based on the Coatest® Classic and/or Modified functional haematological tests. Glycosylase Mediated Polymorphism Detection (GMPD), a SNP screening technique and DNA sequencing, were used to identify SNPs in the factor V gene of 5 APCR subjects.ResultsSixteen percent of the study group had an APCR phenotype. Factor V Leiden (FVL), FV Cambridge, and haplotype (H) R2 alleles were identified in this group. Thirty-three SNPs; 9 silent SNPs and 24 missense SNPs, of which 20 SNPs were novel, were identified in the 5 APCR subjects. Adverse pregnancy outcomes were found at a frequency of 35% in the group with APCR based on Classic Coatest® test only and at 45% in the group with APCR based on the Modified Coatest® test. Forty-eight percent of subjects with FVL had adverse outcomes while in the group of subjects with no FVL, adverse outcomes occurred at a frequency of 37%.ConclusionsKnown mutations and novel SNPs in the factor V gene were identified in the study cohort determined to have APCR in pregnancy. Further studies are required to investigate the contribution of these novel SNPs to the APCR phenotype. Adverse outcomes including early pregnancy loss (EPL), preeclampsia (PET) and intrauterine growth restriction (IGUR) were not significantly more frequent in subjects with APCR compared to normal pregnant women however Pregnancy induced hypertension (PIH) was found to be associated with FVL in our study group.

show abstract

Cystic fibrosis mutation frequencies in an Irish population

Cited by 17 publications

References 29 publications

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Hyperpolarized 3helium magnetic resonance ventilation imaging of the lung in cystic fibrosis: comparison with high resolution CT and spirometry

APCR, factor V gene known and novel SNPs and adverse pregnancy outcomes in an Irish cohort of pregnant women

Contact Info

Product

Resources

About