Genetic diagnostic methods for inherited eye diseases

Middle East African Journal of Ophthalmology

Volumn 18, Issue 1, 2011, Pages 24-29

  Gabriel, Luis A R ^a   Traboulsi, Elias I ^a,b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b NONE   (United States)

Author keywords

Diagnosis; Genetics; Karyotype; Laboratory; Mutation

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL PRACTICE; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DNA MICROARRAY; DNA SEQUENCE; DOWN SYNDROME; EDWARDS SYNDROME; EYE DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; GENETIC SCREENING; HAPPY PUPPET SYNDROME; HEALTH CARE UTILIZATION; HUMAN; INTERMETHOD COMPARISON; KARYOTYPE; KLINEFELTER SYNDROME; LABORATORY DIAGNOSIS; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PATAU SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCREENING TEST; SINGLE STRAND CONFORMATION POLYMORPHISM; TURNER SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 79953067387     PISSN: 09749233     EISSN: 09751599     Source Type: Journal    
DOI: 10.4103/0974-9233.75881     Document Type: Article

References (49)

1. Chung DC, Traboulsi EI. Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 2009;13:587-92.
2. Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, et al. Age-dependent effects of RPE65 gene therapy for Lebers congenital amaurosis: A phase 1 dose-escalation trial. Lancet 2009;374:1597-605.
3. Stone EM. Leber congenital amaurosis: A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007;144:791-811.
4. Levitsky GA. The material basis of heredity. Kiev: State Publication Office of the Ukraine, 1924.
5. Levitsky G.A. The morphology of chromosomes. Bull Appl Bot Genet Plant Breed 1931;27:19-174.
6. Gaudry P, Grang G, Lebbar A, Choiset A, Girard S, Goffinet F, et al. Fetal loss after amniocentesis in a series of 5,780 procedures. Fetal Diagn Ther 2008;23:217-21.
7. Odibo AO, Gray DL, Dicke JM, Stamilio DM, Macones GA, Crane JP. Revisiting the fetal loss rate after second-trimester genetic amniocentesis: A single centers 16-year experience. Obstet Gynecol 2008;111:589-95. (Pubitemid 351654062)
8. Odibo AO, Dicke JM, Gray DL, Oberle B, Stamilio DM, Macones GA, et al. Evaluating the rate and risk factors for fetal loss after chorionic villus sampling. Obstet Gynecol 2008;112:813-9.
9. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: A systematic review. Obstet Gynecol 2007;110:687-94. (Pubitemid 47359597)
10. Wilson RD, Farquharson DF, Wittmann BK, Shaw D. Cordocentesis: Overall pregnancy loss rate as important as procedure loss rate. Fetal Diagn Ther 1994;9:142-8. (Pubitemid 24179031)
11. Bell JG, Weiner S. Cordocentesis. Curr Opin Obstet Gynecol 1993;5:218-24. (Pubitemid 23104669)
12. Nowakowska B, Bocian E. Molecular cytogenetic techniques and their application in clinical diagnosis. Med Wieku Rozwoj 2004;8:7-24.
13. Carpenter NJ. Molecular cytogenetics. Semin Pediatr Neurol 2001;8:135-46. (Pubitemid 32888749)
14. Sawyer JR, Johnson MP, Miller OJ. Traditional and molecular cytogenetics. J Reprod Med 1992;37:485-98.
15. Speicher MR, Carter NP. The new cytogenetics: Blurring the boundaries with molecular biology. Nat Rev Genet 2005;6:782-92. (Pubitemid 41400836)
16. Fröhling S, Skelin S, Liebisch C, Scholl C, Schlenk RF, Dhner H, et al. Comparison of cytogenetic and molecular cytogenetic detection of chromosome abnormalities in 240 consecutive adult patients with acute myeloid leukemia. J Clin Oncol 2002;20:2480-5.
17. Mandava S, Koppaka N, Bhatia V, Das BR. Cytogenetic analysis of 1572 cases of Down syndrome: A report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population. Genet Test Mol Biomarkers 2010;14:499-504.
18. Dayakar S, Rani DS, Babu SJ, Srilatha K, Jayanthi U, Goud KI, et al. Increasing role of cytogenetics in pediatric practice. Genet Test Mol Biomarkers 2010;14:197-204.
19. Jaouad IC, Cherkaoui Deqaqi S, Sbiti A, Natiq A, Elkerch F, Sefiani A. Cytogenetic and epidemiological profiles of Down syndrome in a Moroccan population: A report of 852 cases. Singapore Med J 2010;51:133-6.
20. Liehr T, Starke H, Heller A, Kosyakova N, Mrasek K, Gross M, et al. Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding. Cytogenet Genome Res 2006;114:240-4. (Pubitemid 44352679)
21. Dorritie K, Montagna C, Difilippantonio MJ, Ried T. Advanced molecular cytogenetics in human and mouse. Expert Rev Mol Diagn 2004;4:663-76. (Pubitemid 39220840)
22. Chang SS, Mark HF. Emerging molecular cytogenetic technologies. Cytobios 1997; 90:7-22. (Pubitemid 127533445)
23. Kearney L. Molecular cytogenetics. Best Pract Res Clin Haematol 2001;14:645-69.
24. Jain KK. Current status of fluorescent in-situ hybridisation. Med Device Technol 2004;15:14-7.
25. McNeil N, Ried T. Novel molecular cytogenetic techniques for identifying complex chromosomal rearrangements: Technology and applications in molecular medicine. Expert Rev Mol Med 2000;14:1-14.
26. Rudolph C, Schlegelberger B. Spectral karyotyping and fluorescence in situ hybridization of murine cells. Methods Mol Biol 2009;506:453-66.
27. Nataraj AJ, Olivos-Glander I, Kusukawa N, Highsmith WE Jr. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis 1999;20:1177-85. (Pubitemid 29262135)
28. Sekiya T. Single-strand conformation polymorphism (SSCP) analysis: A convenient, rapid method for detection of single-base changes in DNA. Tanpakushitsu Kakusan Koso 1996;41:539-45.
29. Fodde R, Losekoot M. Mutation detection by denaturing gradient gel electrophoresis (DGGE). Hum Mutat 1994;3:83-94. (Pubitemid 24077224)
30. Sekiya T. Detection of mutant sequences by single-strand conformation polymorphism analysis. Mutat Res 1993;288:79-83. (Pubitemid 23193128)
31. Peterson C. Denaturing gradient gel electrophoresis (DGGE). J Vis Exp 2007;25:164.
32. Knapp LA. Single nucleotide polymorphism screening with denaturing gradient gel electrophoresis. Methods Mol Biol 2009;578:137-51.
33. Jones N, Ougham H, Thomas H, Pasakinskiene I. Markers and mapping revisited: finding your gene. New Phytol 2009;183:935-66.
34. Cullis CA. The use of DNA polymorphisms in genetic mapping. Genet Eng (N Y) 2002;24:179-89.
35. Jaakson K, Zernant J, Klm M, Hutchinson A, Tonisson N, Glavac D, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 2003;22:395-403.
36. Zernant J, Klm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, et al. Genotyping microarray (disease chip) for Leber congenital amaurosis: Detection of modifier alleles. Invest Ophthalmol Vis Sci 2005;46:3052-9.
37. Auffray C, Mundy C, Metspalu A. DNA arrays: Methods and applications: report on HUGO Meeting, Tartu, Estonia, 23-26 May, 1999. Eur J Hum Genet 2000;8:236-8.. (Pubitemid 30189869)
38. Gyllensten UB. PCR and DNA sequencing. Biotechniques 1989;7:700-8. (Pubitemid 19212395)
39. McBride LJ, Koepf SM, Gibbs RA, Salser W, Mayrand PE, Hunkapiller MW, et al. Automated DNA sequencing methods involving polymerase chain reaction. Clin Chem 1989;35:2196-201. (Pubitemid 20004692)
40. Kusukawa N, Uemori T, Asada K, Kato I. Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction. Biotechniques 1990;9:66-8, 70, 72.
41. Bevan IS, Rapley R, Walker MR. Sequencing of PCR-amplified DNA. PCR Met Appl 1992;1:222-8.
42. Green PM, Giannelli F. Direct sequencing of PCR-amplified DNA. Mol Biotechnol 1994;1:117-24.
43. Kilger C, Pääbo S. Direct DNA sequence determination from total genomic DNA. Nucleic Acids Res 1997;25:2032-4.
44. Anderson RA, Pickering S. The current status of preimplantation genetic screening: British Fertility Society Policy and Practice Guidelines. Hum Fertil (Camb) 2008;11:71-5. (Pubitemid 351935233)
45. Lavery S. Preimplantation genetic diagnosis and the welfare of the child. Hum Fertil (Camb) 2004;7:295-300. (Pubitemid 40100679)
46. Drack AV, Lambert SR, Stone EM. From the laboratory to the clinic: Molecular genetic testing in pediatric ophthalmology. Am J Ophthalmol 2010;149:10-17.
47. Stone EM. Genetic testing for inherited eye disease. Arch Ophthalmol 2007;125:205-12.
48. Stone EM. Finding and interpreting genetic variations that are important to ophthalmologists. Trans Am Ophthalmol Soc 2003;101:437-84. (Pubitemid 38209340)
49. Bollinger K, Traboulsi EI. Molecular genetics for the pediatric ophthalmologist. J Pediatr Ophthalmol Strabismus 2007;44:209-15; quiz 241-2. (Pubitemid 47280415)