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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

ABSTRACT: Duchenne and Becker muscular dystrophies are caused by a large number of different mutations in the dystrophin gene. Outside of the deletion/duplication "hot spots," small mutations occur at unpredictable positions. These account for about 15 to 20% of cases, with the major group being premature stop codons. When the affected male is deceased, carrier testing for family members and prenatal diagnosis become difficult and expensive. We tailored a cost-effective and reliable strategy to discover point mutations from stored DNA samples in the absence of a muscle biopsy. Samples were amplified in combinatorial pools and tested by denaturing high-performance liquid chromatography analysis. An anomalous elution profile belonging to two different pools univocally addressed the allelic variation to an unambiguous sample. Mutations were then detected by sequencing. We identified 121 mutations of 99 different types. Fifty-six patients show stop codons that represent the 46.3% of all cases. Three non-obvious single amino acid mutations were considered as causative. Our data support combinatorial denaturing high-performance liquid chromatography analysis as a clear-cut strategy for time and cost-effective identification of small mutations when only DNA is available.

SUBMITTER: Torella A

PROVIDER: S-EPMC2797720 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Torella Annalaura A Trimarco Amelia A Blanco Francesca Del Vecchio Fdel V Cuomo Anna A Aurino Stefania S Piluso Giulio G Minetti Carlo C Politano Luisa L Nigro Vincenzo V

The Journal of molecular diagnostics : JMD 20091203 1

Duchenne and Becker muscular dystrophies are caused by a large number of different mutations in the dystrophin gene. Outside of the deletion/duplication "hot spots," small mutations occur at unpredictable positions. These account for about 15 to 20% of cases, with the major group being premature stop codons. When the affected male is deceased, carrier testing for family members and prenatal diagnosis become difficult and expensive. We tailored a cost-effective and reliable strategy to discover p ...[more]

PMID: 19959795

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Project description:A species discovery and description pipeline to accelerate and improve taxonomy is outlined, relying on concise expert descriptions, combined with DNA sequencing, digital imaging, and automated wiki species page creation from the journal. One hundred and one new species of Trigonopterus Fauvel, 1862 are described to demonstrate the feasibility of this approach: Trigonopterus aeneipennis sp. n., Trigonopterus aeneus sp. n., Trigonopterus agathis sp. n., Trigonopterus agilis sp. n., Trigonopterus amplipennis sp. n., Trigonopterus ancoruncus sp. n., Trigonopterus angulatus sp. n., Trigonopterus angustus sp. n., Trigonopterus apicalis sp. n., Trigonopterus armatus sp. n., Trigonopterus ascendens sp. n., Trigonopterus augur sp. n., Trigonopterus balimensis sp. n., Trigonopterus basalis sp. n., Trigonopterus conformis sp. n., Trigonopterus constrictus sp. n., Trigonopterus costatus sp. n., Trigonopterus costicollis sp. n., Trigonopterus crassicornis sp. n., Trigonopterus cuneipennis sp. n., Trigonopterus cyclopensis sp. n., Trigonopterus dentirostris sp. n., Trigonopterus discoidalis sp. n., Trigonopterus dromedarius sp. n., Trigonopterus durus sp. n., Trigonopterus echinus sp. n., Trigonopterus edaphus sp. n., Trigonopterus eremitus sp. n., Trigonopterus euops sp. n., Trigonopterus ferrugineus sp. n., Trigonopterus fusiformis sp. n., Trigonopterus glaber sp. n., Trigonopterus gonatoceros sp. n., Trigonopterus granum sp. n., Trigonopterus helios sp. n., Trigonopterus hitoloorum sp. n., Trigonopterus imitatus sp. n., Trigonopterus inflatus sp. n., Trigonopterus insularis sp. n., Trigonopterus irregularis sp. n., Trigonopterus ixodiformis sp. n., Trigonopterus kanawiorum sp. n., Trigonopterus katayoi sp. n., Trigonopterus koveorum sp. n., Trigonopterus kurulu sp. n., Trigonopterus lekiorum sp. n., Trigonopterus lineatus sp. n., Trigonopterus lineellus sp. n., Trigonopterus maculatus sp. n., Trigonopterus mimicus sp. n., Trigonopterus monticola sp. n., Trigonopterus montivagus sp. n., Trigonopterus moreaorum sp. n., Trigonopterus myops sp. n., Trigonopterus nangiorum sp. n., Trigonopterus nothofagorum sp. n., Trigonopterus ovatus sp. n., Trigonopterus oviformis sp. n., Trigonopterus parumsquamosus sp. n., Trigonopterus parvulus sp. n., Trigonopterus phoenix sp. n., Trigonopterus plicicollis sp. n., Trigonopterus politoides sp. n., Trigonopterus pseudogranum sp. n., Trigonopterus pseudonasutus sp. n., Trigonopterus ptolycoides sp. n., Trigonopterus punctulatus sp. n., Trigonopterus ragaorum sp. n., Trigonopterus rhinoceros sp. n., Trigonopterus rhomboidalis sp. n., Trigonopterus rubiginosus sp. n., Trigonopterus rubripennis sp. n., Trigonopterus rufibasis sp. n., Trigonopterus scabrosus sp. n., Trigonopterus scissops sp. n., Trigonopterus scharfi sp. n., Trigonopterus signicollis sp. n., Trigonopterus simulans sp. n., Trigonopterus soiorum sp. n., T sordidus sp. n., Trigonopterus squamirostris sp. n., Trigonopterus striatus sp. n., Trigonopterus strigatus sp. n., Trigonopterus strombosceroides sp. n., Trigonopterus subglabratus sp. n., Trigonopterus sulcatus sp. n., Trigonopterus taenzleri sp. n., Trigonopterus talpa sp. n., Trigonopterus taurekaorum sp. n., Trigonopterus tialeorum sp. n., Trigonopterus tibialis sp. n., Trigonopterus tridentatus sp. n., Trigonopterus uniformis sp. n., Trigonopterus variabilis sp. n., Trigonopterus velaris sp. n., Trigonopterus verrucosus sp. n., Trigonopterus violaceus sp. n., Trigonopterus viridescens sp. n., Trigonopterus wamenaensis sp. n., Trigonopterus wariorum sp. n., Trigonopterus zygops sp. n.. All new species are authored by the taxonomist-in-charge, Alexander Riedel.

Project description:BackgroundNicotine replacement therapy (NRT) is the most common form of smoking cessation pharmacotherapy and has proven efficacy for the treatment of tobacco dependence. Although expectations of mild adverse effects have been observed to be independent predictors of reduced motivation to use NRT, adverse effects associated with NRT have not been precisely quantified.ObjectiveA systematic review and meta-analysis aimed to identify all randomized clinical trials (RCTs) of NRT versus inert controls and all observational studies to determine the magnitude of reported adverse effects with NRT.MethodsSearches of 10 electronic databases from inception to November 2009 were conducted. Study selection and data extraction were carried out independently in duplicate. RCTs were pooled using a random effects method with Odds Ratio [OR] as the effect measure, while proportions were pooled from observational studies. A meta-regression analysis was applied to examine whether the nicotine patch is associated with different adverse effects from those common to orally administered NRT.ResultsNinety-two RCTs involving 32,185 participants and 28 observational studies involving 145, 205 participants were identified. Pooled RCT evidence of varying NRT formulations found an increased risk of heart palpitations and chest pains (OR 2.06, 95% Confidence Interval [CI] 1.51-2.82, P < 0.001); nausea and vomiting (OR 1.67, 95% CI 1.37-2.04, P < 0.001); gastrointestinal complaints (OR 1.54, 95% CI, 1.25-1.89, P < 0.001); and insomnia (OR 1.42, 95% CI, 1.21-1.66, P < 0.001). Pooled evidence specific to the NRT patch found an increase in skin irritations (OR 2.80, 95% CO, 2.28-3.24, P < 0.001). Orally administered NRT was associated with mouth and throat soreness (OR 1.87, 95% CI, 1.36-2.57, P < 0.001); mouth ulcers (OR 1.49, 95% CI, 1.05-2.20, P < 0.001); hiccoughs (OR 7.68, 95% CI, 4.59-12.85, P < 0.001) and coughing (OR 2.89, 95% CI, 1.92-4.33, P < 0.001). There was no statistically significant increase in anxiety or depressive symptoms associated with NRT use. Non-comparative observational studies demonstrated the prevalence of these events in a broad population.ConclusionThe use of NRT is associated with a variety of side effects. In addition to counseling and medical monitoring, clinicians should inform patients of potential side effects which are associated with the use of NRT for the treatment of tobacco dependence.

Dataset Information

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

Publications

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

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