Molecular biology in ophthalmology

Rizzo, Luiz V.; Belfort Jr., Rubens

doi:10.5935/0004-2749.19970110

Full text available only in PDF format.

REFERÊNCIAS BIBLIOGRÁFICAS

¹
LEWIS, B. - Genes 2nd ed. John Wiley & Sons, New York, 1983.
²
DELLA, N. G.; SENIOR, P. V. & BOWTELL, D. D. - Isolation and characterisation of murine homologues of the Drosophila seven in absentiagene (sina). Development, 117: 1333-1343, 1993.
³
QUIRING, R.; WALLDORF, U.; KLOTER, U & GEHRING, W. J. - Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans [see comments]. Science, 265: 785-789, 1994.
⁴
ZACK, D. J. - Of mice and men: what mice can teach us about human ophthalmic disease [editorial] [see comments]. Arch Ophthalmol, 111: 911-913, 1993.
⁵
TRABOULSI, E. I. - Developmental genes and ocular malformation syndromes. Am J Ophthalmol, 115: 105-107, 1993.
⁶
OLSSON, J. E.; GORDON, J. W.; PAWLYK, B. S.; ROOF, D.; HAYES, A. et al. - Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron, 9: 815-830, 1992.
⁷
NAASH, M. I.; HOLLYFIELD, J. G.; ALUBAIDI, M. R. & BAEHR, W. - Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci USA, 90: 5499-5503, 1993.
⁸
KLEIN, K. L.; KLINTWORTH, G. K.; BERNSTEIN, A. & BREITMAN, M. L. - Embryology and morphology of microphthalmia in transgenic mice expressing a gamma F-crystallin/diphtheria toxin A hybrid gene. Lab Invest, 67: 31-41, 1992.
⁹
GOTZ, W. - Transgenic models for eye malformations. Ophthalmic Genet, 16: 85-104, 1995.
¹⁰
LUTTY, G. A.; McLEOD, D. S.; PACHNIS, A.; COSTANTINI, F.; FABRY, M. E. et al - Retinal and choroidal neovascularization in a transgenic mouse model of sickle cell disease. Am J Pathol, 145: 490-497, 1994.
¹¹
ALVARADO, J. A.; UNDERWOOD, J. L.; GREEN, W. R.; WU, S.; MURPHY, C. G. et al. - Detection of herpes simplex viral DNA in the iridocorneal endothelial syndrome [see comments]. Arch Ophthalmol, 112: 1601-1609, 1994.
¹²
STEWART, J. F.; CROXSON, M. C.; POWELL, K. F. & POLKINGHORNE, P. J. - Identification of cytomegalovirus in vitreous using the polymerase chain reaction. Aust N Z J Ophthalmol, 21: 165-169, 1993.
¹³
KOTAKE, S.; KIMURA, K.; YOSHIKAWA, K.; SASAMOTO, Y.; MATSUDA, A. et al. - Polymerase chain reaction for the detection of Mycobacterium tuberculosis in ocular tuberculosis [letter]. Am J Ophthalmol, 117: 805-806, 1994.
¹⁴
THOMPSON, W. S.; CULBERTSON, W. W.; SMIDDY, W. E.; ROBERTSON, J. E. & ROSENBAUM, J. T. - Acute retinal necrosis caused by reactivation of herpes simplex virus type 2. Am J Ophthalmol, 118: 205-211, 1994.
¹⁵
KOWALSKI, R. P.; GORDON, Y. J.; ROMANOWSKI, E. G.; ARAULLO-CRUZ, T. & KINCHINGTON, P. R. - A comparison of enzime immunoassay and polymerase chain reaction with the clinical examination for diagnosing ocular herpetic disease. Ophthalmology, 100: 530-533, 1993.
¹⁶
BREZIN, A. P.; EQWUAGU, C. E.; SILVEIRA, C.; THULLIEZ, P.; MARTINS, M. C. et al. - Analysis of aqueous humor in ocular toxoplasmosis [letter]. N Eng J Med, 324: 699, 1991.
¹⁷
KINCHINGTON, P. R.; TURSE, S. E.; KOWALSKI, R. P. & GORDON, Y. J. - Use of polymerase chain amplification reaction for the detection of advenoviruses in ocular swab specimens. Invest Ophthalmol Vis Sci, 35: 4126-4134, 1994.
¹⁸
GORDON, Y. J. - Rapid diagnostic tests for infectious ocular disease. Int Ophthalmol Clin, 33: 153-161, 1993.
¹⁹
TON, C. C.; HIRVONEN, H.; MIWA, H.; WEIL, M. M.; MONAGHAN, P. et al. - Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell, 67: 1059-1074, 1991.
²⁰
HANSON, I. M.; FLETCHER, J. M.; JORDAN, T.; BROWN, A.; TAYLOR, D. et al. - Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet, 6: 168-173, 1994.
²¹
TASSABEHJI, M.; NEWTON, V. E.; LEVERTON, K.; TURNBULL, K.; SEEMANOVA, E. et al. - PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet, 3: 1069-1074.
²²
TASSABEHJI, M.; READ, A. P.; NEWTON, V. E.; PATTON, M.; GRUSS, P. et al - Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet, 3: 26-30, 1993.
²³
BALDWIN, C. T.; HOTH, C. F.; MACINA, R. A. & MILUNSKY, A. - Mutations in PAX3 that cause Waardenburg syndrome type 1: ten new mutations and review of the literature. Am J Med Genet, 58: 115-122, 1995.
²⁴
BALDWIN, C. T.; LIPSKY, N. R.; HOTH, C. F.; COHEN, T.; MAMUYA, W. et al. - Mutations in PAX3 associated with Waardenburg syndrome type 1. Hum Mutat, 3: 205-211, 1994.
²⁵
HOTH, C. F.; MILUNSKY, A.; LIPSKY, N.; SHEFFER, R.; CLARREN, S. K. et al. - Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet, 52: 455-462, 1993.
²⁶
FARRER, L. A.; ARNOS, K. S.; ASHER, J. H. Jr.; BALDWIN, C. T.; DIEHL, S. R. et al - Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet, 55: 728-737, 1994.
²⁷
ISHIKIRIYAMA, S. - Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3 [letter]. Am J Med Genet, 46: 608, 1993.
²⁸
LU-KUO, J.; WARD, D. C.; & SPRITZ, R. A. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type 1 (WSI) locus (PAX3 gene). Genomics, 16: 173-179, 1993.
²⁹
M'RAD, R.; SANAK, M. & DESCHENES, G - Alport syndrome: a genetic study of 31 families. Human Gen, 90: 420-426, 1993.
³⁰
ATTREE, O.; OLIVOS, I. M.; OKABE, I.; BAILEY, L. C.; NELSON, D. L. et al. - The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature, 358: 239-242, 1992.
³¹
OKABE, I; ATTREE, O.; BAILEY, L. C.; NELSON, D. L. & NUSSBAUM, R. L. - Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis, 15: 526-531, 1992.
³²
AHMAD, N. N.; ALA-KOKKO, L.; KNOWLTON, R. G.; JIMENEZ, S. A.; WEAVER, E. J. et al. - Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA, 88: 6624-6627.
³³
AHMAD, N. N.; DIMASCIO, J.; KNOWLTON, R. G. & TASMAN, W. S. - Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Arch Ophthalmol, 113: 1454-1457.
³⁴
AHMAD, N. N.; McDONALD-McGINN, D. M.; ZACKAI, E. H.; KNOWLTON, R. G.; LaROSSA, D et al. - A second mutation in the type II procollagen gene (COL2Al) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet, 52: 39-45, 1993.
³⁵
KORKKO, J.; RITVANIEMI, P.; HAATAJA, L.; KAARIAINEN, H.; KIVIRIKKO K. I. et al. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataract and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) [see comments]. Am J Hum Genet, 53: 55-61, 1993.
³⁶
CHEN, Z. Y.; BATTINELLI, E. M.; FIELDER, A.; BUNDEY, S.; SIMS, K. et al. - A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet, 5: 180-183, 1993.
³⁷
BERGER, W.; MEINDL, A.; Van de POL, T. J.; CREMERS, F. P.; ROPERS, H. H. et al. - Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet, 2: 84, 1992.
³⁸
BERGER, W.; MEINDL, A.; Van de POL, T. J.; CREMERS, F. P.; ROPERS, H. H. et al. - Isolation of a candidate gene for Norrie disease by positional cloning [published erratum appears in Nat Genet Sep; 2(1): 84]. Nat Genet, 1: 199-203, 1992.
³⁹
FRIEND, S. H.; BERNARDS, R.; ROGELJ, S.; WEINBERG, R. A.; RAPAPORT, J. M. et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323: 643-646, 1986.
⁴⁰
ROSENFELD, P. J.; COWLEY, G. S.; McGEE, T. L.; SANDBERG, M. A.; BERSON, E. L. et al. -A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet, 1: 209-213, 1992.
⁴¹
McLAUGHLIN, M. E.; SANDBERG, M. A.; BERSON. E. L. & DRYJA, T. P. - Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet, 4: 130-134, 1993.
⁴²
DRYJA, T. P.; McGEE, T. L.; REICHEL, E.; HAHN, L. B.; COWLEY, G. S. et al. - A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343: 364-366, 1990.
⁴³
FARRAR, G. J.; KENNA, P.; JORDAN, S. A.; KUMAR-SINGH, R.; HUMPHRIES, M. M. et al - A three-base-pair deletion in the peripherinRDS gene in one form of retinitis pigmentosa. Nature, 354: 478-480, 1991.
⁴⁴
HUMPHRIES, P.; FARRAR, G. J.; KENNA, P. & McWILLIAM, P. - Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clin Genet, 38: 1-13, 1990.
⁴⁵
KAJIWARA, K.; HAHN, L. B.; MUKAI, S.; TRAVIS, G. H.; BERSON, E. L. et al - Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature, 354: 480-483.
⁴⁶
INANA, G.; TOTSUKA, S.; REDMOND, M.; DOUGHERTY, T.; NAGLE, J. et al. - Molecular cloning of human ornithine aminotransferase mRNA. Proc Natl Acad Sci USA, 83: 1203-1207, 1986.
⁴⁷
OETTING, W. S. & KING, R. A. - Analysis of mutations in the copper B binding region associated with type 1 (tyrosinase-related) oculocutaneous albinism. Pigment Cell Res, 5: 274-278, 1992.
⁴⁸
OETTING, W. S.; WITKOP, C. J. Jr.; BROWN, S. A.; COLOMER, R.; FRYER, J. P. et al - A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet, 52: 17-23, 1993.
⁴⁹
PARK, K. C.; CHINTAMANENI, C. D.; HALABAN, R.; WITKOP, C. J. Jr. & KWON, B. S. - Molecular analyses of a tyrosinase-negative albino family. Am J Hum Genet, 52: 406-413, 1993.
⁵⁰
GIEBEL, L. B.; TRIPATHI, R. K.; STRUNK, K. M.; HANIFIN, J. M.; JACKSON, C. E. et al - Tyrosinase gene mutations associated with type 18 (yellow) oculocutaneous albinism [published erratum appears in Am J Hum Genet, Sep; 49(3): 696]. Am J Hum Genet, 48: 1159-1167, 1991.
⁵¹
CREMERS, F. P.; BRUNSMANN, F. BERGER, W.; Van KERKHOFF, E. P.; Van de POL, T. J. et al - Cloning of the breakpoints of a deletion associated with choroideremia. Hum Genet, 86: 61-64, 1990.
⁵²
Van de POL T. J.; CREMERS, F. P.; BROHET, R. M.; WIERINGA, B. & ROPERS, H. H. Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res, 18: 725-731, 1990.
⁵³
SEABRA, M. C.; BROWN, M. S.; SLAUGHTER, C. A.; SUDHOF, T. C. & GOLDSTEIN, J. L. - Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell, 70: 1049-1057.
⁵⁴
SEABRA, M. C.; BROWN, M. S. & GOLDSTEIN, J. L. - Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science, 259: 377-381, 1993.
⁵⁵
CAWTHON, R. M.; WElSS, R.; XU, G. F.; VISKOCHIL, D.; CULVER, M. et al. - A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations [published erratum appears in Cell 1990 Aug 10; 62(3): following 608]. Cell, 62: 193-201, 1990.
⁵⁶
WALLACE, M. R.; MARCHUK, D. A.; ANDERSEN, L. B.; LETCHER, R.; ODEH, H. M. et al. - Type I neurofibromatosis gene: identification of a large transcript disrupted in three NFl patients [published erratum appears in Science, Dec 21; 250 (4988): 1749], Science, 249: 181-186, 1990.
⁵⁷
HARLEY, H. G.; BROOK, J. D.; RUNDLE, S. A.; CROW, S.; REARDON, W. et al. - Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy [see comments]. Nature, 355: 545-546, 1992.
⁵⁸
BROOK, J. D.; McCURRACH, M. E.; HARLEY, H. G.; BUCKLER, A. J.; CHURCH, D. et al. - Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member [published erratum appears in Cell, Apr 17; 69(2): 385]. Cell, 68: 799-808, 1992.
⁵⁹
BUXTON, J.; SHELBOURNE, P.; DAVIES, J.; JONES, C.; VAN TONGEREN, T. et al. - Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy [comment]. Nature, 355: 547-548, 1992.
⁶⁰
ASLANIDIS, C.; JANSEN, G.; AMEMIYA, C.; SHUTLER, G.; MAHADEVAN, M. et al. - Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355: 548-551, 1992.
⁶¹
FU, Y. H.; PIZZUTI, A.; FENWICK, R. G. Jr.; KING, J.; RAJNARAYAN, S. et al. - An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science, 255: 1256-1258, 1992.
⁶²
JANSEN, G.; MAHADEVAN, M.; AMEMIYA, C.; WORMSKAMP, N.; SEGERS, B. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet, 1: 261-266, 1992.
⁶³
MAHADEVAN, M.; TSILFIDIS, C.; SABOURIN, L.; SHUTLER, G.; AMEMIYA, C. et al. - Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science, 255: 1253-1255, 1992.
⁶⁴
WELLS, J.; WROBLEWSKI, J.; KEEN, J.; IGLEHEARN, C.; JUBB, C. et al. - Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy [see comments]. Nat Genet, 3: 213-218, 1993.
⁶⁵
SIEVING, P. A.; RICHARDS, J. E. & BINGHAM, E. L. -Dominant congenital complete nyctalopia and Gly90Asp rhodopsin mutation. Invest Ophthalmol Vis Sci, 33: 1397-1404.
⁶⁶
DRYJA, T. P.; BERSON, E. L.; RAO, V. R. & OPRIAN, D. D. - Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet, 4: 280-283, 1993.
⁶⁷
LEE, B.; GODFREY, M.; VITALE, E.; HORI, H.; MATTEI, M. G. et al. - Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes [see comments]. Nature, 352: 330-334, 1991.
⁶⁸
TSIPOURAS, P.; Dei MASTRO, R.; SARFARAZI, M.; LEE, B.; VITALE, E. et al. - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med, 326: 905-909, 1992.
⁶⁹
KAJIWARA, K.; SANDBERG, M. A.; BERSON E. L. & DRYJA, T. P. - A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens [see comments]. Nat Genet, 3: 208-212, 1993.

Publication Dates

Publication in this collection
Feb 1997

This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

[1] ¹
LEWIS, B. - Genes 2nd ed. John Wiley & Sons, New York, 1983.

[2] ²
DELLA, N. G.; SENIOR, P. V. & BOWTELL, D. D. - Isolation and characterisation of murine homologues of the Drosophila seven in absentiagene (sina). Development, 117: 1333-1343, 1993.

[3] ³
QUIRING, R.; WALLDORF, U.; KLOTER, U & GEHRING, W. J. - Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans [see comments]. Science, 265: 785-789, 1994.

[4] ⁴
ZACK, D. J. - Of mice and men: what mice can teach us about human ophthalmic disease [editorial] [see comments]. Arch Ophthalmol, 111: 911-913, 1993.

[5] ⁵
TRABOULSI, E. I. - Developmental genes and ocular malformation syndromes. Am J Ophthalmol, 115: 105-107, 1993.

[6] ⁶
OLSSON, J. E.; GORDON, J. W.; PAWLYK, B. S.; ROOF, D.; HAYES, A. et al. - Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron, 9: 815-830, 1992.

[7] ⁷
NAASH, M. I.; HOLLYFIELD, J. G.; ALUBAIDI, M. R. & BAEHR, W. - Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci USA, 90: 5499-5503, 1993.

[8] ⁸
KLEIN, K. L.; KLINTWORTH, G. K.; BERNSTEIN, A. & BREITMAN, M. L. - Embryology and morphology of microphthalmia in transgenic mice expressing a gamma F-crystallin/diphtheria toxin A hybrid gene. Lab Invest, 67: 31-41, 1992.

[9] ⁹
GOTZ, W. - Transgenic models for eye malformations. Ophthalmic Genet, 16: 85-104, 1995.

[10] ¹⁰
LUTTY, G. A.; McLEOD, D. S.; PACHNIS, A.; COSTANTINI, F.; FABRY, M. E. et al - Retinal and choroidal neovascularization in a transgenic mouse model of sickle cell disease. Am J Pathol, 145: 490-497, 1994.

[11] ¹¹
ALVARADO, J. A.; UNDERWOOD, J. L.; GREEN, W. R.; WU, S.; MURPHY, C. G. et al. - Detection of herpes simplex viral DNA in the iridocorneal endothelial syndrome [see comments]. Arch Ophthalmol, 112: 1601-1609, 1994.

[12] ¹²
STEWART, J. F.; CROXSON, M. C.; POWELL, K. F. & POLKINGHORNE, P. J. - Identification of cytomegalovirus in vitreous using the polymerase chain reaction. Aust N Z J Ophthalmol, 21: 165-169, 1993.

[13] ¹³
KOTAKE, S.; KIMURA, K.; YOSHIKAWA, K.; SASAMOTO, Y.; MATSUDA, A. et al. - Polymerase chain reaction for the detection of Mycobacterium tuberculosis in ocular tuberculosis [letter]. Am J Ophthalmol, 117: 805-806, 1994.

[14] ¹⁴
THOMPSON, W. S.; CULBERTSON, W. W.; SMIDDY, W. E.; ROBERTSON, J. E. & ROSENBAUM, J. T. - Acute retinal necrosis caused by reactivation of herpes simplex virus type 2. Am J Ophthalmol, 118: 205-211, 1994.

[15] ¹⁵
KOWALSKI, R. P.; GORDON, Y. J.; ROMANOWSKI, E. G.; ARAULLO-CRUZ, T. & KINCHINGTON, P. R. - A comparison of enzime immunoassay and polymerase chain reaction with the clinical examination for diagnosing ocular herpetic disease. Ophthalmology, 100: 530-533, 1993.

[16] ¹⁶
BREZIN, A. P.; EQWUAGU, C. E.; SILVEIRA, C.; THULLIEZ, P.; MARTINS, M. C. et al. - Analysis of aqueous humor in ocular toxoplasmosis [letter]. N Eng J Med, 324: 699, 1991.

[17] ¹⁷
KINCHINGTON, P. R.; TURSE, S. E.; KOWALSKI, R. P. & GORDON, Y. J. - Use of polymerase chain amplification reaction for the detection of advenoviruses in ocular swab specimens. Invest Ophthalmol Vis Sci, 35: 4126-4134, 1994.

[18] ¹⁸
GORDON, Y. J. - Rapid diagnostic tests for infectious ocular disease. Int Ophthalmol Clin, 33: 153-161, 1993.

[19] ¹⁹
TON, C. C.; HIRVONEN, H.; MIWA, H.; WEIL, M. M.; MONAGHAN, P. et al. - Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell, 67: 1059-1074, 1991.

[20] ²⁰
HANSON, I. M.; FLETCHER, J. M.; JORDAN, T.; BROWN, A.; TAYLOR, D. et al. - Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet, 6: 168-173, 1994.

[21] ²¹
TASSABEHJI, M.; NEWTON, V. E.; LEVERTON, K.; TURNBULL, K.; SEEMANOVA, E. et al. - PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet, 3: 1069-1074.

[22] ²²
TASSABEHJI, M.; READ, A. P.; NEWTON, V. E.; PATTON, M.; GRUSS, P. et al - Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet, 3: 26-30, 1993.

[23] ²³
BALDWIN, C. T.; HOTH, C. F.; MACINA, R. A. & MILUNSKY, A. - Mutations in PAX3 that cause Waardenburg syndrome type 1: ten new mutations and review of the literature. Am J Med Genet, 58: 115-122, 1995.

[24] ²⁴
BALDWIN, C. T.; LIPSKY, N. R.; HOTH, C. F.; COHEN, T.; MAMUYA, W. et al. - Mutations in PAX3 associated with Waardenburg syndrome type 1. Hum Mutat, 3: 205-211, 1994.

[25] ²⁵
HOTH, C. F.; MILUNSKY, A.; LIPSKY, N.; SHEFFER, R.; CLARREN, S. K. et al. - Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet, 52: 455-462, 1993.

[26] ²⁶
FARRER, L. A.; ARNOS, K. S.; ASHER, J. H. Jr.; BALDWIN, C. T.; DIEHL, S. R. et al - Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet, 55: 728-737, 1994.

[27] ²⁷
ISHIKIRIYAMA, S. - Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3 [letter]. Am J Med Genet, 46: 608, 1993.

[28] ²⁸
LU-KUO, J.; WARD, D. C.; & SPRITZ, R. A. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type 1 (WSI) locus (PAX3 gene). Genomics, 16: 173-179, 1993.

[29] ²⁹
M'RAD, R.; SANAK, M. & DESCHENES, G - Alport syndrome: a genetic study of 31 families. Human Gen, 90: 420-426, 1993.

[30] ³⁰
ATTREE, O.; OLIVOS, I. M.; OKABE, I.; BAILEY, L. C.; NELSON, D. L. et al. - The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature, 358: 239-242, 1992.

[31] ³¹
OKABE, I; ATTREE, O.; BAILEY, L. C.; NELSON, D. L. & NUSSBAUM, R. L. - Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis, 15: 526-531, 1992.

[32] ³²
AHMAD, N. N.; ALA-KOKKO, L.; KNOWLTON, R. G.; JIMENEZ, S. A.; WEAVER, E. J. et al. - Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA, 88: 6624-6627.

[33] ³³
AHMAD, N. N.; DIMASCIO, J.; KNOWLTON, R. G. & TASMAN, W. S. - Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Arch Ophthalmol, 113: 1454-1457.

[34] ³⁴
AHMAD, N. N.; McDONALD-McGINN, D. M.; ZACKAI, E. H.; KNOWLTON, R. G.; LaROSSA, D et al. - A second mutation in the type II procollagen gene (COL2Al) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet, 52: 39-45, 1993.

[35] ³⁵
KORKKO, J.; RITVANIEMI, P.; HAATAJA, L.; KAARIAINEN, H.; KIVIRIKKO K. I. et al. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataract and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) [see comments]. Am J Hum Genet, 53: 55-61, 1993.

[36] ³⁶
CHEN, Z. Y.; BATTINELLI, E. M.; FIELDER, A.; BUNDEY, S.; SIMS, K. et al. - A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet, 5: 180-183, 1993.

[37] ³⁷
BERGER, W.; MEINDL, A.; Van de POL, T. J.; CREMERS, F. P.; ROPERS, H. H. et al. - Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet, 2: 84, 1992.

[38] ³⁸
BERGER, W.; MEINDL, A.; Van de POL, T. J.; CREMERS, F. P.; ROPERS, H. H. et al. - Isolation of a candidate gene for Norrie disease by positional cloning [published erratum appears in Nat Genet Sep; 2(1): 84]. Nat Genet, 1: 199-203, 1992.

[39] ³⁹
FRIEND, S. H.; BERNARDS, R.; ROGELJ, S.; WEINBERG, R. A.; RAPAPORT, J. M. et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323: 643-646, 1986.

[40] ⁴⁰
ROSENFELD, P. J.; COWLEY, G. S.; McGEE, T. L.; SANDBERG, M. A.; BERSON, E. L. et al. -A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet, 1: 209-213, 1992.

[41] ⁴¹
McLAUGHLIN, M. E.; SANDBERG, M. A.; BERSON. E. L. & DRYJA, T. P. - Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet, 4: 130-134, 1993.

[42] ⁴²
DRYJA, T. P.; McGEE, T. L.; REICHEL, E.; HAHN, L. B.; COWLEY, G. S. et al. - A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature, 343: 364-366, 1990.

[43] ⁴³
FARRAR, G. J.; KENNA, P.; JORDAN, S. A.; KUMAR-SINGH, R.; HUMPHRIES, M. M. et al - A three-base-pair deletion in the peripherinRDS gene in one form of retinitis pigmentosa. Nature, 354: 478-480, 1991.

[44] ⁴⁴
HUMPHRIES, P.; FARRAR, G. J.; KENNA, P. & McWILLIAM, P. - Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease. Clin Genet, 38: 1-13, 1990.

[45] ⁴⁵
KAJIWARA, K.; HAHN, L. B.; MUKAI, S.; TRAVIS, G. H.; BERSON, E. L. et al - Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature, 354: 480-483.

[46] ⁴⁶
INANA, G.; TOTSUKA, S.; REDMOND, M.; DOUGHERTY, T.; NAGLE, J. et al. - Molecular cloning of human ornithine aminotransferase mRNA. Proc Natl Acad Sci USA, 83: 1203-1207, 1986.

[47] ⁴⁷
OETTING, W. S. & KING, R. A. - Analysis of mutations in the copper B binding region associated with type 1 (tyrosinase-related) oculocutaneous albinism. Pigment Cell Res, 5: 274-278, 1992.

[48] ⁴⁸
OETTING, W. S.; WITKOP, C. J. Jr.; BROWN, S. A.; COLOMER, R.; FRYER, J. P. et al - A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Am J Hum Genet, 52: 17-23, 1993.

[49] ⁴⁹
PARK, K. C.; CHINTAMANENI, C. D.; HALABAN, R.; WITKOP, C. J. Jr. & KWON, B. S. - Molecular analyses of a tyrosinase-negative albino family. Am J Hum Genet, 52: 406-413, 1993.

[50] ⁵⁰
GIEBEL, L. B.; TRIPATHI, R. K.; STRUNK, K. M.; HANIFIN, J. M.; JACKSON, C. E. et al - Tyrosinase gene mutations associated with type 18 (yellow) oculocutaneous albinism [published erratum appears in Am J Hum Genet, Sep; 49(3): 696]. Am J Hum Genet, 48: 1159-1167, 1991.

[51] ⁵¹
CREMERS, F. P.; BRUNSMANN, F. BERGER, W.; Van KERKHOFF, E. P.; Van de POL, T. J. et al - Cloning of the breakpoints of a deletion associated with choroideremia. Hum Genet, 86: 61-64, 1990.

[52] ⁵²
Van de POL T. J.; CREMERS, F. P.; BROHET, R. M.; WIERINGA, B. & ROPERS, H. H. Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res, 18: 725-731, 1990.

[53] ⁵³
SEABRA, M. C.; BROWN, M. S.; SLAUGHTER, C. A.; SUDHOF, T. C. & GOLDSTEIN, J. L. - Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell, 70: 1049-1057.

[54] ⁵⁴
SEABRA, M. C.; BROWN, M. S. & GOLDSTEIN, J. L. - Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. Science, 259: 377-381, 1993.

[55] ⁵⁵
CAWTHON, R. M.; WElSS, R.; XU, G. F.; VISKOCHIL, D.; CULVER, M. et al. - A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations [published erratum appears in Cell 1990 Aug 10; 62(3): following 608]. Cell, 62: 193-201, 1990.

[56] ⁵⁶
WALLACE, M. R.; MARCHUK, D. A.; ANDERSEN, L. B.; LETCHER, R.; ODEH, H. M. et al. - Type I neurofibromatosis gene: identification of a large transcript disrupted in three NFl patients [published erratum appears in Science, Dec 21; 250 (4988): 1749], Science, 249: 181-186, 1990.

[57] ⁵⁷
HARLEY, H. G.; BROOK, J. D.; RUNDLE, S. A.; CROW, S.; REARDON, W. et al. - Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy [see comments]. Nature, 355: 545-546, 1992.

[58] ⁵⁸
BROOK, J. D.; McCURRACH, M. E.; HARLEY, H. G.; BUCKLER, A. J.; CHURCH, D. et al. - Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member [published erratum appears in Cell, Apr 17; 69(2): 385]. Cell, 68: 799-808, 1992.

[59] ⁵⁹
BUXTON, J.; SHELBOURNE, P.; DAVIES, J.; JONES, C.; VAN TONGEREN, T. et al. - Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy [comment]. Nature, 355: 547-548, 1992.

[60] ⁶⁰
ASLANIDIS, C.; JANSEN, G.; AMEMIYA, C.; SHUTLER, G.; MAHADEVAN, M. et al. - Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355: 548-551, 1992.

[61] ⁶¹
FU, Y. H.; PIZZUTI, A.; FENWICK, R. G. Jr.; KING, J.; RAJNARAYAN, S. et al. - An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science, 255: 1256-1258, 1992.

[62] ⁶²
JANSEN, G.; MAHADEVAN, M.; AMEMIYA, C.; WORMSKAMP, N.; SEGERS, B. et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet, 1: 261-266, 1992.

[63] ⁶³
MAHADEVAN, M.; TSILFIDIS, C.; SABOURIN, L.; SHUTLER, G.; AMEMIYA, C. et al. - Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science, 255: 1253-1255, 1992.

[64] ⁶⁴
WELLS, J.; WROBLEWSKI, J.; KEEN, J.; IGLEHEARN, C.; JUBB, C. et al. - Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy [see comments]. Nat Genet, 3: 213-218, 1993.

[65] ⁶⁵
SIEVING, P. A.; RICHARDS, J. E. & BINGHAM, E. L. -Dominant congenital complete nyctalopia and Gly90Asp rhodopsin mutation. Invest Ophthalmol Vis Sci, 33: 1397-1404.

[66] ⁶⁶
DRYJA, T. P.; BERSON, E. L.; RAO, V. R. & OPRIAN, D. D. - Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet, 4: 280-283, 1993.

[67] ⁶⁷
LEE, B.; GODFREY, M.; VITALE, E.; HORI, H.; MATTEI, M. G. et al. - Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes [see comments]. Nature, 352: 330-334, 1991.

[68] ⁶⁸
TSIPOURAS, P.; Dei MASTRO, R.; SARFARAZI, M.; LEE, B.; VITALE, E. et al. - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med, 326: 905-909, 1992.

[69] ⁶⁹
KAJIWARA, K.; SANDBERG, M. A.; BERSON E. L. & DRYJA, T. P. - A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens [see comments]. Nat Genet, 3: 208-212, 1993.

Brasil

Brasil

Molecular biology in ophthalmology

Biologia molecular em oftalmologia

REFERÊNCIAS BIBLIOGRÁFICAS

Publication Dates