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1. Contents Vol. 33, 2001

Author

M.G. Leone, Tadeusz Pakula, Sung J. Kim, Sebastian Esperante, Margaret J. Springett, Beate Wolters, Ray Jui-Fang Tsai, Yan-Xia Hao, Maria Davila, Helen Lew, Giuseppe Cappucci, Daniel Borelina, Ezequiel Surace, Michio Hirano, Irene Szijan, Diana Lidia Parma, Hideaki Oharazawa, Mayra Rodríguez-Hernandez, Maria Pia Manitto, L. Romanelli, L. Saso, B. Tita, M.L. Casini, E. Fumagalli, Woo I. Yang, Hui-Chuan Wu, Choun-Ki Joo, Maurizio Margaglione, Kunitoshi Ohara, Ali Naini, Francesca Simonelli, Xiaofang Wang, Hae-Sook Kim, Liliana Francipane, F. Mattioli, Cheryl R. Hann, Rosaralis Santiestéban, Sang Y. Lee, Rosario Brancato, David G. Hwang, Francesco Testa, Fen Zhang, Jan-Kan Chen, Viviana Dalamon, Maria Ziembar, Ernesto Rinaldi, Hironori Matsui, Albert J. Augustin, Nobuhiro Ibaraki, Andreas Frohn, Sungjoo Kim Yoon, H. Burkhard Dick, Douglas H. Johnson, F. Bordi, David Hui-Kang Ma, D. Guidolin, Norbert Pfeiffer, C. Corubolo, Wan-Soo Kim, and J. Fehér

Subjects
Cellular and Molecular Neuroscience, Ophthalmology, General Medicine, Sensory Systems
Published
2001
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2. Detection of mutations in argentine retinoblastoma patients by segregation of polymorphisms, exon analysis and cytogenetic test

Author

Maria Davila, Diana Lidia Parma, Irene Szijan, Viviana Dalamon, Liliana Francipane, Ezequiel Surace, Sebastian Esperante, Daniel Borelina, and Maria Ziembar

Subjects
Retinal Neoplasms, DNA Mutational Analysis, Argentina, Loss of Heterozygosity, Biology, medicine.disease_cause, Retinoblastoma Protein, Loss of heterozygosity, Cellular and Molecular Neuroscience, Exon, Polymorphism (computer science), Chromosome Segregation, medicine, Humans, Allele, Genetics, Gene Rearrangement, Mutation, Polymorphism, Genetic, Transition (genetics), Retinoblastoma, Karyotype, General Medicine, DNA, Neoplasm, Exons, medicine.disease, Molecular biology, eye diseases, Sensory Systems, Pedigree, Ophthalmology, Cytogenetic Analysis, Female
Abstract

The aim of this study was to detect chromosomal and molecular abnormalities in 16 Argentine families with retinoblastoma (RB). Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors was studied by segregation of polymorphisms within RB gene (RB1) and the DNA from chorionic villus by sequencing. The karyotype of an Rb236 bilateral patient with dismorphic signs revealed a deletion in 13q13–21. Polymorphism and exon analyses showed a deletion in the 3′ end of RB1 in an Rb72 patient. The mutant RB1 allele, detected by loss of heterozygosity (LOH) in the tumor, was identified in 14 out of 18 tumors. The analysis of chorionic villus revealed a mutation, a C-to-T transition in exon 18. Molecular and cytogenetic analyses in families with RB offer valuable information on how to assess the risk of tumor development.

Published
2001

3. Subject Index Vol. 33, 2001

Author

B. Tita, F. Bordi, C. Corubolo, Kunitoshi Ohara, Ali Naini, Xiaofang Wang, Rosaralis Santiestéban, Woo I. Yang, Sang Y. Lee, Nobuhiro Ibaraki, Ezequiel Surace, Diana Lidia Parma, Michio Hirano, Sung J. Kim, David G. Hwang, L. Romanelli, Douglas H. Johnson, Hideaki Oharazawa, Fen Zhang, Viviana Dalamon, L. Saso, Cheryl R. Hann, Ernesto Rinaldi, Hui-Chuan Wu, Beate Wolters, Choun-Ki Joo, Wan-Soo Kim, Hae-Sook Kim, Maria Davila, Liliana Francipane, Rosario Brancato, Norbert Pfeiffer, Maria Ziembar, Ray Jui-Fang Tsai, Maurizio Margaglione, Francesco Testa, Hironori Matsui, Mayra Rodríguez-Hernandez, F. Mattioli, M.G. Leone, J. Fehér, Sebastian Esperante, Albert J. Augustin, Helen Lew, Daniel Borelina, Tadeusz Pakula, Yan-Xia Hao, Andreas Frohn, Francesca Simonelli, Irene Szijan, Sungjoo Kim Yoon, H. Burkhard Dick, Maria Pia Manitto, Margaret J. Springett, M.L. Casini, E. Fumagalli, Giuseppe Cappucci, Jan-Kan Chen, David Hui-Kang Ma, and D. Guidolin

Subjects
Cellular and Molecular Neuroscience, Ophthalmology, Index (economics), Statistics, Subject (documents), General Medicine, Sensory Systems, Mathematics
Published
2001
Full Text
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