The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots

Tai, Chang-Long; Yu, Hsien‐Chung; Chiang, Chiang-Chuan; Chiang, Hung; Suen, Jeng-Hung; Kao, Shu‐Fang; Huang, Yu‐Huei; Wu, Tina Jui-Ting; Yang, Chia‐Feng; Tsai, Fang-Chih; Lin, Ching‐Yuang; Chang, Jan‐Gowth; Chen, Hong‐Duo; Niu, Dau‐Ming

doi:10.1016/j.cca.2011.10.023

Cited by 21 publications

(12 citation statements)

References 20 publications

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“…The reagent was used for DNA extraction from EDTA anticoagulant blood, the OD value was stably between 1.8 and 1.9; good linear relationship was shown for the DNA yields with the used blood volume of 20 μl, 50 μl, 80 μl, 100 μl, 150 μl and 200 μl. This purification system is widely used for nucleic acid detection (Tai et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva: A qualitative study

Wang

Chen²,

Nan³

et al. 2016

Gene

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110

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Section: Discussionmentioning

confidence: 99%

Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva: A qualitative study

Wang

Chen²,

Nan³

et al. 2016

Gene

176

110

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“…Genotyping of DNA extracted from filter paper has already been successfully performed in a number of diseases, including Fabry disease (Hagège et al 2011;Tai et al 2012), an X-chromosomal LSD. Our study also demonstrates that DBS can also be used for molecular genetic analysis of the genes involved in MPS I, II, VI and ML II/III.…”

Section: Discussionmentioning

confidence: 99%

“…However, some recent studies have shown that genotyping is also feasible on DNA extracted from a DBS (Harahap et al 2012;Hollegaard et al 2011;Quraishi et al 2012). Although this method has already been applied successfully to detect mutations involved in Fabry disease, an Xchromosomal LSD (Hagège et al 2011;Tai et al 2012), its usefulness remains to be shown for other LSDs such as MPS and ML II/III. Therefore, the current prospective study aimed additionally at testing whether DBS could be applied to ascertain the diagnosis of MPS in patients with an 'MPS-like' phenotype, using the same DBS for both enzymatic and molecular genetic analyses.…”

Section: Introductionmentioning

confidence: 99%

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Cobos¹,

Steglich²,

Santer³

et al. 2014

JIMD Reports

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Background: As patients with different types of mucopolysaccharidosis (MPS) and mucolipidosis (ML) may present with overlapping clinical features -including coarse face, hepatosplenomegaly, bone dysplasia and claw-hand deformities, collectively also called 'MPS-like phenotype', enzymatic and/or molecular genetic analyses are indispensable for accurate diagnosis and applying specific therapy. In this prospective study, we screened patients with symptoms compatible with MPS for MPS I, II (males) and VI.Methods: Dried blood spots/specimens (DBS) were collected from 200 patients with an MPS-like phenotype and analysed for activities of a-iduronidase (IDUA), iduronate-2-sulphatase (IDS), and arylsulphatase B (ARSB), the enzymes deficient in mucopolysaccharidosis (MPS) type I, II and VI, respectively. For the samples with pathologic enzyme activity, mutational analysis was carried out using the same DBS.Results: Based on enzymatic analysis of 200 DBS samples, a total of 45 (22.5%) showed low activity; 17 for MPS I (8.5%), 11 for MPS II (5.5%) and 9 for MPS VI (4.5%). Enzyme activities were suggestive for ML II/III in 8 (4.0%) cases. For 41 (91.1%) samples, DNA could be extracted from the filter paper. Mutations were identified in 11 (64.7%), 11 (100%), 9 (100%) and 5 (62.5%) patients putatively diagnosed biochemically with MPS I, II, VI, and ML II/III, respectively.Conclusions: DBS enzymatic analysis can be used to diagnose MPS/ML. Initial results should be confirmed by a second enzyme assay and/or by molecular genetic testing. Given the advantages of DBS over other sample types in terms of ease of collection, storage and transportation, DBS are particularly useful for screening patients with an MPS-like phenotype in regions lacking specialised laboratories. In order to ascertain the diagnosis in a large number of cases, patients should be assessed in parallel for at least MPS I, II and VI.

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“…DNA was isolated from whole blood using the GFX genomic Blood DNA Purification Kit (Amersham Biosciences, UK) following the manufacturer’s instructions. The primer sets were used to amplify the sequences of seven GLA exons and the region including IVS4 + 919G > A [24,25]. The polymerase chain reaction products were analyzed by 1.5% agarose I (Amresco) gel electrophoresis and then eluted in the polymerase chain reaction Advanced PCR Clean Up System (Viogene, USA.).…”

Section: Methodsmentioning

confidence: 99%

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

Hsu

Sung

Chang

et al. 2014

Orphanet J Rare Dis

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BackgroundIn Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patients with left ventricular hypertrophy and this mutationMethods and resultsEndomyocardial biopsies were obtained in 22 patients (Median age: 61, males: 17; females: 5) with left ventricular hypertrophy and the IVS4 + 919G > A mutation; five patients had not received enzyme replacement therapy (ERT) before biopsy, while the other 17 patients had received ERT from 8 months to 51 months. Except for three patients who had received ERT for more than 3 years, all other patients showed significant pathological change and globotriaosylceramide (Gb3) accumulation in their cardiomyocytes. In contrast to classical Fabry patients, no Gb3 accumulation was found in the capillary endothelial cells of any of our patients. Fourteen patients (63.6%) were found to have myofibrillolysis.ConclusionsAll of the untreated and most of the treated IVS4 + 919G > A patients showed typical pathological changes of Fabry disease in their cardiomyocytes. No endothelial accumulation of Gb3 was found, which is similar to the findings of several previous reports regarding later-onset Fabry disease. This result highly suggests that the IVS4 + 919G > A is a real pathogenic later-onset Fabry mutation.

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The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots

Cited by 21 publications

References 20 publications

Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva: A qualitative study

Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva: A qualitative study

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A)

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