Utility of array CGH in molecular diagnosis of mitochondrial disorders

Methods in Molecular Biology

Volumn 837, Issue , 2012, Pages 301-312

  Wang, Jing ^a   Rakhade, Mrudula ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

aCGH; Mitochondrial Disorder; MitoMet array

Indexed keywords

CARBOCYANINE; CY5 DCTP; CY5-DCTP; DEOXYCYTIDINE PHOSPHATE; MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; BIOSYNTHESIS; COMPARATIVE GENOMIC HYBRIDIZATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA MICROARRAY; GENETICS; HUMAN; ISOLATION AND PURIFICATION; METABOLISM; METHODOLOGY; MITOCHONDRIAL GENOME; STAINING;

CARBOCYANINES; COMPARATIVE GENOMIC HYBRIDIZATION; DEOXYCYTOSINE NUCLEOTIDES; DNA RESTRICTION ENZYMES; DNA, MITOCHONDRIAL; GENOME, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; STAINING AND LABELING;

EID: 84863011509     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-504-6_20     Document Type: Article

References (17)

1. Wong, L. J., Dimmock, D., Geraghty, M. T., Quan, R., Lichter-Konecki, U., Wang, J., Brundage, E. K., Scaglia, F., and Chinault, A. C. (2008) Utility of oligonucleotide arraybased comparative genomic hybridization for detection of target gene deletions. Clin Chem 54, 1141-8. (Pubitemid 352009690)
2. Chinault, A. C., Shaw, C. A., Brundage, E. K., Tang, L. Y., and Wong, L. J. (2009) Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med 11, 518-26.
3. Mendell, J. R., Buzin, C. H., Feng, J., Yan, J., Serrano, C., Sangani, D. S., Wall, C., Prior, T. W., and Sommer, S. S. (2001) Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57, 645-50. (Pubitemid 32782992)
4. Shchelochkov, O. A., Li, F. Y., Geraghty, M. T., Gallagher, R. C., Van Hove, J. L., Lichter-Konecki, U., Fernhoff, P. M., Copeland, S., Reimschisel, T., Cederbaum, S., Lee, B., Chinault, A. C., and Wong, L. J. (2009) Highfrequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab 96, 97-105.
5. Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F., and Pals, G. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30, e57.
6. Monaco, A. P., Bertelson, C. J., Middlesworth, W., Colletti, C. A., Aldridge, J., Fischbeck, K. H., Bartlett, R., Pericak-Vance, M. A., Roses, A. D., and Kunkel, L. M. (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316, 842-5. (Pubitemid 15003748)
7. Bendavid, C., Kleta, R., Long, R., Ouspenskaia, M., Muenke, M., Haddad, B. R., and Gahl, W. A. (2004) FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet 115, 510-4. (Pubitemid 39562282)
8. Sieber, O. M., Lamlum, H., Crabtree, M. D., Rowan, A. J., Barclay, E., Lipton, L., Hodgson, S., Thomas, H. J., Neale, K., Phillips, R. K., Farrington, S. M., Dunlop, M. G., Mueller, H. J., Bisgaard, M. L., Bulow, S., Fidalgo, P., Albuquerque, C., Scarano, M. I., Bodmer, W., Tomlinson, I. P., and Heinimann, K. (2002) Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas. Proc Natl Acad Sci USA 99, 2954-8. (Pubitemid 34240567)
9. Schrijver, I., Rappahahn, K., Pique, L., Kharrazi, M., and Wong, L. J. (2008) Multiplex ligation-dependent probe amplification identifi cation of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 10, 368-75. (Pubitemid 352019124)
10. Boone, P. M., Bacino, C. A., Shaw, C. A., Eng, P. A., Hixson, P. M., Pursley, A. N., Kang, S. H., Yang, Y., Wiszniewska, J., Nowakowska, B. A., del Gaudio, D., Xia, Z., Simpson-Patel, G., Immken, L. L., Gibson, J. B., Tsai, A. C., Bowers, J. A., Reimschisel, T. E., Schaaf, C. P., Potocki, L., Scaglia, F., Gambin, T., Sykulski, M., Bartnik, M., Derwinska, K., Wisniowiecka-Kowalnik, B., Lalani, S. R., Probst, F. J., Bi, W., Beaudet, A. L., Patel, A., Lupski, J. R., Cheung, S. W., and Stankiewicz, P. (2010) Detection of clinically relevant exonic copynumber changes by array CGH. Hum Mutat 31, 1326-42.
11. Ou, Z., Kang, S. H., Shaw, C. A., Carmack, C. E., White, L. D., Patel, A., Beaudet, A. L., Cheung, S. W., and Chinault, A. C. (2008) Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical arraycomparative genomic hybridization analyses. Genet Med 10, 278-89. (Pubitemid 351544130)
12. Dhami, P., Coffey, A. J., Abbs, S., Vermeesch, J. R., Dumanski, J. P., Woodward, K. J., Andrews, R. M., Langford, C., and Vetrie, D. (2005) Exon array CGH: detection of copynumber changes at the resolution of individual exons in the human genome. Am J Hum Genet 76, 750-62. (Pubitemid 40563097)
13. Lu, X., Shaw, C. A., Patel, A., Li, J., Cooper, M. L., Wells, W. R., Sullivan, C. M., Sahoo, T., Yatsenko, S. A., Bacino, C. A., Stankiewicz, P., Ou, Z., Chinault, A. C., Beaudet, A. L., Lupski, J. R., Cheung, S. W., and Ward, P. A. (2007) Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2, e327.
14. Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., de Ravel, T. J., Jayakar, P., Belli, S., Rocchetti, K., Pantaleoni, C., D'Arrigo, S., Hughes, J., Cheung, S. W., Zuffardi, O., and Stankiewicz, P. (2010) Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet.
15. Compton, A. G., Troedson, C., Wilson, M., Procopis, P. G., Li, F. Y., Brundage, E. K., Yamazaki, T., Thorburn, D. R., and Wong, L. J. (2010) Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Mitochondrion.
16. Lee, N. C., Dimmock, D., Hwu, W. L., Tang, L. Y., Huang, W. C., Chinault, A. C., and Wong, L. J. (2009) Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. Arch Dis Child 94, 55-8.
17. Zhang, S., Li, F. Y., Bass, H. N., Pursley, A., Schmitt, E. S., Brown, B. L., Brundage, E. K., Mardach, R., and Wong, L. J. (2010) Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab 99, 53-7.