A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations
Copy‐number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these abe...
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| Published in | Electrophoresis Vol. 30; no. 3; pp. 465 - 471 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Weinheim
WILEY-VCH Verlag
01.02.2009
WILEY‐VCH Verlag |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0173-0835 1522-2683 1522-2683 |
| DOI | 10.1002/elps.200800321 |
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| Abstract | Copy‐number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost‐effective alternative to existing assays for routine, large‐scale screening in all at‐risk individuals with either deletion or duplication in 22q11.2. |
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| AbstractList | Copy‐number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost‐effective alternative to existing assays for routine, large‐scale screening in all at‐risk individuals with either deletion or duplication in 22q11.2. Copy-number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost-effective alternative to existing assays for routine, large-scale screening in all at-risk individuals with either deletion or duplication in 22q11.2.Copy-number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools. A competitive fluorescent multiplex STR polymorphism assay (CFMSA) was built for detecting these aberrations. With the introduction of an internal reference and distinguishable STR polymorphism markers, this competitive fluorescent multiplex STR polymorphism assay provides complementary information about polymorphism and gene dosage in one tube simultaneously, thereby enhancing the assay sensitivity. It was first tested in 110 normal controls, and was proven to have highly polymorphic and reliable gene dosage information. Then, 476 subjects with congenital heart defect were screened according to the testing strategy of the American Heart Association, and 17 deletions and 1 duplication of 22q11.2 were correctly identified. It is expected that this assay will serve as a cost-effective alternative to existing assays for routine, large-scale screening in all at-risk individuals with either deletion or duplication in 22q11.2. |
| Author | Mo, Xuming Bian, Xuming Wu, Xiaojian Yang, Chi Jiang, Yongzhong Shen, Li Chen, Shilin Zhang, Jingjing Xu, Zhengfeng Gu, Haitao Yi, Long Wang, Dongjin Wang, Yaping Peng, Yuzhu Cao, Li Liu, Juntao Qiao, Di |
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| References_xml | – reference: Radonic, A., Thulke, S., Mackay, I. M., Landt, O. et al., Biochem. Biophys. Res. Commun. 2004, 313, 856-862. – reference: Bunyan, D. J., Eccles, D. M., Sillibourne. J., Wilkins, E. et al., Br. J. Cancer 2004, 91, 1155-1159. – reference: Rauch, A., Hofbeck, M., Leipold, G., Klinge, J. et al., Am. J. Med. Genet. 1998, 78, 322-331. – reference: Benson, G., Nucleic Acids Res. 1999, 27, 573-580. – reference: Yobb, T. M., Somerville, M. J., Willatt, L., Firth, H. V. et al., Am. J. Hum. Genet. 2005, 76, 865-876. – reference: Yi, L., Xu, Z. F., Mo, X. M., Hu, Y. L. et al., Mol. Cell. Probes 2006, 20, 359-365. – reference: Fernández, L., Lapunzina, P., Arjona, D., López, P. I. et al., Clin. Genet. 2005, 68, 373-378. – reference: Vorstman, J. A. S., Jalali, G. R., Rappaport, E. F., Hacker, A. M. et al., Hum. Mutat. 2006, 27, 814-821. – reference: Edelmann, L., Pandita, R. K., Spiteri, E., Funke, B. et al., Hum. Mol. 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| Snippet | Copy‐number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional... Copy-number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional... |
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| SubjectTerms | 22q11.2 at-risk population Chromosome Aberrations Chromosomes, Human, Pair 22 - genetics Competitive fluorescent multiplex STR polymorphism assay cost effectiveness Deletion Duplication electrophoresis Fetus - metabolism fluorescence Gene Dosage genetic polymorphism Genetic Testing - methods heart Heart Defects, Congenital - diagnosis Humans Nucleic Acid Amplification Techniques - methods phenotype Polymorphism, Genetic Screening Spectrometry, Fluorescence - methods |
| Title | A novel competitive fluorescent multiplex STR polymorphism assay for rapid, reliable and single-tube screening of 22q11.2 copy-number aberrations |
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