دورية أكاديمية
Microtransponder-based multiplex assay for genotyping cystic fibrosis.
| العنوان: | Microtransponder-based multiplex assay for genotyping cystic fibrosis. |
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| المؤلفون: | Lin X; PharmaSeq, Inc., Monmouth Junction, NJ 08852, USA., Flint JA, Azaro M, Coradetti T, Kopacka WM, Streck DL, Wang Z, Dermody J, Mandecki W |
| المصدر: | Clinical chemistry [Clin Chem] 2007 Jul; Vol. 53 (7), pp. 1372-6. Date of Electronic Publication: 2007 May 17. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0009-9147 (Print) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2020- : Oxford : Oxford University Press Original Publication: Baltimore, Md. : P.B. Hoeber, [c1955- |
| مواضيع طبية MeSH: | Cystic Fibrosis/*genetics , Cystic Fibrosis Transmembrane Conductance Regulator/*genetics, Black or African American ; Electronics/instrumentation ; Genotype ; Hispanic or Latino ; Humans ; Microchip Analytical Procedures ; Mutation ; Polymerase Chain Reaction ; White People |
| مستخلص: | Background: We developed and evaluated a genotyping assay for detection of 50 cystic fibrosis (CF) mutations. The assay is based on small (500 microm) electronic chips, radio frequency (RF) microtransponders (MTPs). The chips are analyzed on a unique fluorescence and RF readout instrument. Methods: We divided the CF assay into 4 panels: core, Hispanic, African-American, and Caucasian. We amplified 18 CF transmembrane regulator (CFTR) DNA fragments covering 50 mutations by use of multiplex PCR using 18 CFTR gene-specific primer pairs. PCR was followed by multiplex allele-specific primer extension (ASPE) reactions and hybridization to capture probes synthesized on MTPs. We used 100 ASPE primers and 100 capture probes. We performed fluorescence measurements of hybridized MTP kits and assay analysis using a custom automated bench-top flow instrument. Results: We validated the system by performing the assay on 23 commercial DNA samples in an internal study and 32 DNA samples in an external study. For internal and external studies, correct calls were 98.8% and 95.7%, false-positive calls 1.1% and 3.9%, and false-negative calls 0.12% and 0.36%, respectively. Conclusions: The MTP-based multiplex assay and analysis platform can be used for CF genotyping. |
| معلومات مُعتمدة: | HL074607 United States HL NHLBI NIH HHS |
| المشرفين على المادة: | 0 (CFTR protein, human) 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) |
| تواريخ الأحداث: | Date Created: 20070519 Date Completed: 20070918 Latest Revision: 20221207 |
| رمز التحديث: | 20231215 |
| DOI: | 10.1373/clinchem.2006.081810 |
| PMID: | 17510306 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0009-9147 |
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| DOI: | 10.1373/clinchem.2006.081810 |