Development of genomic reference materials for Huntington disease genetic testing
| Autor: | Samantha Maragh, Monique A. Johnson, Elizabeth Berry-Kravis, Kristy L. Richie, Kasinathan Muralidharan, Frederick V. Schaefer, Tina Sellers, Lisa V. Kalman, Karla J. Matteson, Elaine B. Spector, James H. Handsfield, Brett Casey, Jeanne C. Beck, Elizabeth M. Rohlfs, Arlene Buller, Gerald L. Feldman, C. Sue Richards, John P. Jakupciak |
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| Rok vydání: | 2007 |
| Předmět: |
Genetics
Huntingtin Protein medicine.diagnostic_test Genome Human Nuclear Proteins Nerve Tissue Proteins Reference Standards Biology Genome Cell Line law.invention genomic DNA Huntington Disease law medicine Humans Human genome Genetic Testing Allele Predictive testing Genetics (clinical) Polymerase chain reaction Repetitive Sequences Nucleic Acid Genetic testing |
| Zdroj: | Genetics in Medicine. 9:719-723 |
| ISSN: | 1098-3600 |
| DOI: | 10.1097/gim.0b013e318156e8c1 |
| Popis: | Purpose: Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control and reference materials (RM). The aim of this study was to characterize genomic DNA from 14 Huntington cell lines available from the National Institute of General Medical Sciences Human Genetic Cell Repository at the Coriell Cell Repositories for use as reference materials for CAG repeat sizing. Methods: Fourteen Huntington cell lines were selected for study. The alleles in these materials represent a large range of sizes that include important diagnostic cutoffs and allele combinations. The allele measurement study was conducted by ten volunteer laboratories using a variety of polymerase chain reaction-based in-house developed methods and by DNA sequence analysis. Results: The Huntington alleles in the 14 genomic DNA samples range in size from 15 to 100 CAG repeats. There was good agreement among the ten laboratories, and thus, the 95% confidence interval was small for each measurement. The allele size determined by DNA sequence analysis agreed with the laboratory developed tests. Conclusion: These DNA materials, which are available from Coriell Cell Repositories, will facilitate accurate and reliable Huntington genetic testing. |
| Databáze: | OpenAIRE |
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