A simple, high sensitivity mutation screening using Ampligase mediated T7 endonuclease I and Surveyor nuclease with microfluidic capillary electrophoresis

2012 ◽  
Vol 33 (5) ◽  
pp. 788-796 ◽  
Author(s):  
Mo Chao Huang ◽  
Wai Chye Cheong ◽  
Li Shi Lim ◽  
Mo-Huang Li
Keyword(s):  
Capillary Electrophoresis ◽  
Mutation Screening ◽  
High Sensitivity ◽  
Surveyor Nuclease

Abstract 159: Exceptional Aggressiveness of CCM3 Phenotype

Stroke ◽  
2014 ◽  
Vol 45 (suppl_1) ◽  
Author(s):  
Tania J Rebeiz ◽  
Abdul Ghani Mikati ◽  
Darlene Simkhin ◽  
Cornelia Lee ◽  
Amy Akers ◽  
...  
Keyword(s):  
Spontaneous Mutation ◽  
Mutation Screening ◽  
High Sensitivity ◽  
Skin Lesions ◽  
Cerebral Cavernous Malformations ◽  
Cognitive Disability ◽  
Cavernous Malformations ◽  
Patient Advocacy Group ◽  
Sporadic Cases

Introduction: Familial forms of cerebral cavernous malformations (CCM) account for about 1/3 of cases, involving autosomal dominant inheritance at 1 of 3 gene loci. Few studies have examined any special features of the rarest cases with CCM3 (PDCD10 ) mutation at q3, constituting <15 % of probands genotyped by sequential mutation screening, and <2% of CCM cases at large. Hypothesis: We hypothesize that CCM3 cases have unique phenotypic features not recognized in the more common CCM1 and 2 families, or in sporadic cases. Methods: Twelve probands including 17 subjects with confirmed CCM3 mutations were prospectively enrolled through systematic facilitated referral by the patient advocacy group Angioma Alliance. Clinical features were catalogued, including high sensitivity susceptibility weighted imaging (SWI). Rates of overt hemorrhage were determined based on adjudicated criteria. Comparisons were made to systematic literature review of natural history data on non-CCM3 cases. Results: The first overt hemorrhage occurred most often in the 1st decade of life (mean age 5.8). Nine of 17 subjects (52%) suffered 30 overt hemorrhages, with an estimated incidence of 6.7 % /patient/year based on exposure risk since birth, and 17% /patient/year based on risk since first symptom onset. Lesion burden on SWI was exceptionally high, >100 lesions in 28%, and > 20 lesions in 72% of cases, respectively. Adjusted bleed rate was <0.5% /lesion/year. New SWI lesions formed at a rate of 2.7/patient/year in prospective follow-up, and 1.8/patient/year based on years since birth. Scoliosis was found in 47% (an association not recognized previously), skin lesions in 29.4%, and brain tumors in 29.4% of cases, respectively. Cognitive disability affected 47% of cases, mostly in association with high lesion burden. Six of 15 cases with parental screening (40%) represented a spontaneous mutation. Conclusion: CCM3 is exceptionally aggressive compared to other familial and sporadic CCM. High risks of bleeding and cognitive disability mostly reflect severe lesion burden early in life, rather than a higher risk per lesion. These results will inform the design of clinical trials, urgently needed to address this unique CCM cohort.

scholarly journals Fully Automated Two-dimensional Capillary Electrophoresis for High Sensitivity Protein Analysis

2001 ◽  
Vol 1 (1) ◽  
pp. 69-74 ◽  
Author(s):  
David A. Michels ◽  
Shen Hu ◽  
Regine M. Schoenherr ◽  
Michael J. Eggertson ◽  
Norman J. Dovichi
Keyword(s):  
Capillary Electrophoresis ◽  
High Sensitivity ◽  
Protein Analysis ◽  
Two Dimensional

Determination of Sulfonylurea Herbicides in Grains by Capillary Electrophoresis

1995 ◽  
Vol 78 (4) ◽  
pp. 1091-1096 ◽  
Author(s):  
Alexander J Krynitsky ◽  
Douglas M Swtneford
Keyword(s):  
Capillary Electrophoresis ◽  
Lower Limit ◽  
Limit Of Detection ◽  
Solid Phase ◽  
Residue Analysis ◽  
High Sensitivity ◽  
Sulfonylurea Herbicides ◽  
Optical Cell ◽  
Liquid Chromatographic ◽  
Tribenuron Methyl

Abstract A capillary electrophoresis (CE) method was developed to separate and determine residues of 5 sulfonylurea herbicides in grains (wheat, barley, and corn). This work demonstrated the practicality of using CE for residue analysis of sulfonylureas. The method yielded good recoveries and adequate sensitivities at tolerance levels (0.05–0.1 ppm). The compounds investigated were metsulfuron methyl (Ally), thifensulfuron methyl (Harmony), chlorsulfuron (Glean), rimsulfuron (DPX-E9636), and tribenuron methyl (Express). Acetonitrile extracts of grain samples were partitioned with hexane and then cleaned up with cation exchange solid-phase extraction cartridges. Quantitation was performed by micellar electrokinetic capillary chromatography using a high-sensitivity optical cell. Average recoveries at the 0.05 ppm level ranged from 72.9 to 118.5%. The lower limit of detection was approximately 0.02 ppm, except for rimsulfuron and tribenuron methyl, for which the lower limit of detection was 0.035 ppm. The method was less complicated and showed better sensitivity than current single-analyte liquid chromatographic enforcement methods.

High sensitivity detection of Escherichia coli based on the measurement of β-galactosidase activity by microchip capillary electrophoresis combined with field-amplified sample injection

2019 ◽  
Vol 11 (11) ◽  
pp. 1558-1565 ◽  
Author(s):  
Yan Zhang ◽  
Yating Zhang ◽  
Luqi Zhu ◽  
Pingang He ◽  
Qingjiang Wang
Keyword(s):  
Escherichia Coli ◽  
Capillary Electrophoresis ◽  
High Sensitivity ◽  
Laser Induced Fluorescence ◽  
Galactosidase Activity ◽  
Microchip Capillary Electrophoresis ◽  
Sample Injection ◽  
E Coli ◽  
High Sensitivity Detection ◽  
Sensitivity Detection

A sensitive strategy developed for the detection of Escherichia coli (E. coli) by microchip capillary electrophoresis (MCE) combined with laser-induced fluorescence (LIF) is described in this paper.

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