Una saga citogenética
El descubrimiento de los métodos de bandeo cromosómico. Significado y proyección bio-médica
Palabras clave:
TÉCNICAS CITOLÓGICAS, CARIOTIPADO, BANDEO CROMOSÓMICO, CROMOSOMAS, ABERRACIONES CROMOSÓMICAS
Resumen
Se exponen, desde una perspectiva histórica y en forma sucinta, los sistemas de identificación de los cromosomas humanos y varios métodos de bandeo cromosómico desarrollados en las últimas cuatro décadas. Se relatan ámbitos y hechos acontecidos -varios de los cuales protagonizó el autor- que originaron la actual moderna citogenética estructural y molecular. Se mencionan, asimismo, algunos aspectos moleculares implícitos en estas metodologías con el propósito de contribuir al esclarecimiento de los variados aspectos revelados por dichos métodos sobre las estructuras cromosómicas subyacentes. Se describen también los procedimientos analíticos desarrollados en nuestro laboratorio para el estudio de núcleos y cromosomas como así los resultados obtenidos sobre el análisis cuantitativo de la región subtelomérica y su probable relación con las aberraciones crípticas, detectadas en dicho segmento cromosómico, productoras de retardo mental y malformaciones congénitas. Finalmente, se realiza un breve relato sobre las aplicaciones del bandeo cromosómico en el proyecto del genoma humano y su posible utilidad en los experimentos de síntesis artificial de núcleos celulares eucarióticos, de particular significado en biología.
Citas
1) Tjio JH, Levan A. The chromosome number in man. Hereditas 1956; 42:1-6.
2) Seguin E. Le traitement moral, l'hygiène et l'éducation des idiots. Paris: Baillière, JB, 1846: 1.
3) Langdon-Down JH. Observations on an ethnic classification of idiots. Clinical Lectures and Reports. London Hosp 1866; 3: 259-62.
4) Waardenburg PJ. Mongolismus. In: Das Menschliche Auge und seine Erhanlagen. La Haya: Nijhoff, 1932: 44-8.
5) Turpin R, Caratzali A, Rogier H. Étude étiologique de 104 cas de mongolisme et considérations sur la pathogénie de cette maladie. Congrès de la Federation Internationale Latine des Sociétés d'Eugénique, 1. Paris: Masson, 1937: 154-64.
6) Turpin R. L'hérédité des prédispositions morbides. Paris: Gallimard, 1951; p. 261.
7) Drets Me, Navarro A, Ravera J, Muxi J, Touya F. Estudio del cariotipo en algunas disgenesias gonadales. Ann Fac Med (Montevideo), 1964; 49: 411-6.
8) Lejeune J. Leçon Inaugurale par le Professeur Jérôme Lejeune. Chaire de Génétique Fondamentale. Faculté de Médecine de Paris. Sem Hopit 1965; 22: 1339-46.
9) Lejeune J, Gauthier M, Turpin R. Les chromosomes humains en culture de tissus. CR Acad Sci (Paris) 1959; 248: 602-3.
10) Lejeune J. Les chromosomes humains. Paris: Gauthier-Villars, 1965: 535.
11) Lejeune J. The study of gross chromosomal abnormalities. In: Krooth RS, ed. Somatics Cell Genetics Macy Conference of Genetics, 4. Ann Arbor: University Michigan Press, 1964: 1-10.
12) Patau K. The identification of individual chromosomes, especially in man. Am J Hum Genet 1960; 12: 250-76.
13) Patau K. Chromosome identification and the Denver report. Lancet 1961; I: 933-4.
14) Patau K. Polémica pública sobre la presentación de Lejeune J. "The study of gross chromosomal abnormalities". In: Krooth RS, ed. Somatics Cell Genetics Macy Conference of Genetics, 4. Ann Arbor: University Michigan Press, 1964: 11-122.
15) Patau K. Identification of chromosomes. In: Yunis JJ, ed. Human chromosome methodology. New York: Academic Press, 1965: 155-86.
16) Lejeune J, Gauthier M, Turpin R. Étude des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci (Paris) 1959; 248: 1721-2.
17) Lejeune J, Turpin R, Gauthier M. Le mongolisme, premier exemple d'aberration autosomique humaine. Sem Hopit 1959; 2: 41-9.
18) Ramón-Guerra AU, Drets ME. Recuento cromosómico en un caso de mongolismo y en un mongólico con anemia aplásica. Arch Pediatr Uruguay. 1962; 33: 224-30.
19) Drets ME, Cardoso H. Karyotyping in class. Lancet 1968; 1:1376.
20) Caspersson T, Farber S, Foley GE, Kudynowski J, Modest Ej, Simonsson E, et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res 1968; 49: 219-22.
21) Caspersson T, Zech L, Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 1970; 60: 315-9.
22) Caspersson T, Lomakka G, Zech L. The 24 fluorescent patterns of the human metaphase chromosomes - distinguishing characters and variability. Hereditas 1971; 67: 89-102.
23) Weisblum B, De Haseth Pl. Quinacrine, chromosome stain specific for deoxyadenylate-deoxythymidylate-rich regions in DNA. Proc Natl Acad Sci USA 1972; 69: 629-32.
24) Pardue ML, Gall JG. Chromosomal localization of mouse satellite DNA. Science 1970; 168: 1356-8.
25) Arrighi FE, Hsu TC. Localization of heterochromatin in human chromosomes. Cytogenetics 1971; 10: 81-6.
26) Craig-Holmes AP, Moore FB, Shaw MW. Polymorphism of human C-band heterochromatin. I. Frequency of variants. Amer J Hum Genet 1973; 25: 181-92.
27) Stern C. Principles of Human Genetics. San Francisco: Freeman, Principios de Genética Humana. (Traducción: Drets, ME). Buenos Aires: El Ateneo, 1963: 1-830.
28) Drets ME. Methods of improvement of human chromosome morphology. Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1970: 9-10.
29) Drets ME. Specific Banding Patterns of Human Chromosomes Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1971a: 1.
30) Drets ME. Specific Banding Patterns of Human Chromosomes Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1971b:1-8.
31) Drets ME, Shaw MW. Specific banding patterns of human chromosomes. Proc Natl Acad Sci, USA, 1971: 68, 9: 2073-7.
32) Paris Conference. Standardization in human cytogenetics. Cytogenetics 1971; 11: 313-62.
33) Dutrillaux B, Lejeune J. Sur une nouvelle technique d'analyse du caryotype humain. Compt Rend Acad Sci Paris 1971; 272: 2638-40.
34) Seabright M. Rapid banding technique for human chromosomes. Lancet 1971; 2: 971.
35) Dutrillaux B. Nouveau système de marquage chromosomique: les bandes T. Chromosoma 1973; 41: 395-402.
36) Therman E, Susman, M. Human Chromosomes Structure, Behavior and Effects. Berlín:Springer, 3rd. ed. 1993: 1-376; Cromosomas Humanos. Estructura, Comportamiento y Efectos. Brasil: Soc Bras Gen, ed. (Traducción: Drets, ME) 1996: 1-383.
37) Blackburn EH, Gall JG. A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena. J Mol Biol 1978; 120: 33-53.
38) Holmquist Gp. Chromosome bands, their chromatin flavors and their functional features. Am Hum Genet 1992; 51:17-37.
39) Denver Report. A proposed standard system of nomenclature of human mitotic chromosomes. J Hered 1960; 51: 221-41.
40) London Conference. The normal human karyotype. Cytogenetics 1963; 2: 264-8.
41) Chicago Conference. Standardization in human cytogenetics. Birth Defects, Original Article Series, New York: The National Foundation, March of Dimes, 1966; 2: 2.
42) Yunis JJ. High resolution of human chromosomes. Science 1976; 191: 1268-70.
43) ISCN An International System for Human Cytogenetic Nomenclature. High resolution banding. Cytogenet Cell Genet 1978; 21: 309-404.
44) ISCN An International System for Human Cytogenetic Nomenclature. In: Harnden DG, Klinger, HP eds. Report of the Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger, 1981: 117.
45) Drets ME. Human Chromosome Band Mapping. Lancet 1975; 1035.
46) Drets ME, Seuanez H. Quantitation of heterogeneous human heterochromatin microdensitometric analysis of C- and G-bands. In: Coutinho EM, Fuchs F, eds. Physiology and Genetics of Reproduction. Part A, New York: Plenum, 1973: 29-52.
47) Drets ME, Bandscan - A computer program for on-line linear scanning of human banded chromosomes. Comp Progr Biomed 1978; 8: 283-94.
48) Drets ME, Monteverde FJ. Automated cytogenetics with modern computerized scanning microscope photometer systems. In: Obe G, Basler A, eds. Cytogenetics: basic and applied aspects. Berlin: Springer, 1987: 48-64.
49) Drets ME, Folle GA, Monteverde FJ. Quantitative detection of chromosome structures by computerized microphotometer scanning. In: Obe G, Natarajan AT, eds. Chromosomal aberrations: basic and applied aspects. Berlin: Springer, 1989: 1-12.
50) Drets ME, Folle GA, Martínez W, Bonomi R, Duarte JE, Mechoso BH, et al. Quantitative localization of chromatid breaks induced by Alu I in the long arms of chromosome number 1 of Chinese hamster ovary (CHO) cells by microphotometric scanning. In: Obe G, Natarajan AT eds. Chromosome Aberrations, Origin and Significance. Berlin: Springer, 1994; 169-83.
51) Martínez-López W, Bonomi R, Folle GA, Drets ME. Microphotometric scanning of chromatid gaps and breaks induced by AluI y BamHI in Chinese hamster ovary cells. Braz Jour Genet 1996; 19: 577-82.
52) Drets ME, Drets GA, Queirolo PJ, Monteverde FJ. Computer graphics as a tool in cytogenetic research and education. Comp Appl Biosci, CABIOS First Byte. 1995; 11: 463-68.
53) Meyne J, Ratliff RL, Moyzis RK. Conservation of the human telomere sequence (TTAGGG) n among vertebrates. Proc Natl Acad Sci USA 1989; 89: 7049-53.
54) Allen TD, Jack EM, Harrison CJ. The three dimensional structure of human metaphase chromosomes determined by scanning electron microscopy, in: KW Adolph ed. Chromosomes and Chromatin. Florida: CRC Press Inc, 1988; 51-72.
55) Ludeña P, Sentis C, De Cabo F, Velázquez M, Fernández-Piqueras J. Visualization of R-bands in human metaphase chromosomes by the restriction endonuclease MseI. Cytogenet Cell Genet 1991; 57: 82-6.
56) Zakian VA. Structure and function of telomeres. Ann Rev Genet 1989; 23: 579-604.
57) Blackburn EH, Greider CW. Telomeres. Monograph 29. Cold Spring Harbor Lab Press. 1995: 1-396.
58) Conforth MN, Eberle RL. Termini of human chromosomes display elevated rates of mitotic recombination. Mutagenesis 2001; 16: 85-9.
59) Riethman Hc, Xiang Z, Paul S, Morse E, Hu X-L, Flint J, et al. Integration of telomere sequences with the draft human genome sequence. Nature 2001; 409: 948-50.
60) Drets ME, Obe G, Monteverde FJ, Folle GA, Medina II, De Galvez MG, et al. Computerized graphic and light microscope analyses of T-banded chromosome segments of Chinese hamster ovary cells and human lymphocytes. Biol Zentbl 1992a; 111: 204-14.
61) Drets Me, Obe G, Folle Ga, Medina Ii, De Gálvez Gm, Duarte Je, et al. Appearance of "holes" in sub-telomeric regions of human and Chinese hamster ovary cell chromosomes by prolonged incubation in T-banding buffer followed by Giemsa staining. Braz J Genet 1992b; 15: 927-33.
62) Drets Me, Mendizábal M. The underlying structure of the subtelomeric segments detected by microphotometrical scanning and graphic image analysis. Fundamental and Molecular Mechanisms of Mutagenesis. Mutat Res 1998; 404: 13-6.
63) Obe G, Pfeiffer P, Savage JRK, Johannes C, Goedecke W, Jeppesen P, et al. Chromosomal Aberrations: Formation, Identification and Distribution. Mutat Res 2002 (en prensa).
64) Drets ME. Insights into the structure of the subtelomeric chromosome segments. Genet and Mol Biol 2000; 23: 1087-93.
65) Schubert I. Telomeric polymorphism in Vicia faba. Biol Zentrabl 1992; 111: 164-8.
66) Chong L, Van Steensel B, Broccoli D, Erdjument-Bromage H, Hanish J, Tempst P, et al. A human telomeric protein. Science 1995; 270: 1663-7.
67) Korenberg JR, Rykowski MC. Human genome organization: Alu, Lines and the molecular structure of metaphase chromosome bands. Cell 1988; 53: 391-400.
68) Watson JD, Crick FHC. Molecular structure of nucleic acids: A structure for deoxyribose nucleic acid. Nature 1953; 171: 737-8.
69) Gurdon JB. Transplanted nuclei and cell differentiation. Scient Am 1968; 219: 24-35.
70) The Human Genome. The Sequence of the Human Genome. Science 2001; 291: 1304-51; initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
71) Wettstein R. Genoma y Medicina. FEMI 2001; XI, 24-31.
72) Wettstein R. El impacto del conocimiento genómico en la Medicina. Biotecnología, ética médica y derecho. Los nuevos dilemas. Responsabilidad médica para el tercer milenio. Colección "Medicina y Derecho" II 2001; 107-24.
73) Newport J. Nuclear reconstitution in vitro: stages of assembly around protein-free DNA. Cell 1987; 48: 205-17.
74) Newport J, Spann T. Disassembly of the nucleus in mitotic extracts: membrane vesicularization, lamin disassembly, and chromosome condensation are independent processes. Cell 1987; 48: 219-30.
75) van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJR, Bik E, Hofker MH, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996; 5: 1997-2003.
76) Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, et al. A large family with subtelomeric translocation t(18;21;(q23;q22.1; and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997; 100: 669-75.
77) Doheny KF, Mcdermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangements of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet 1997; 34: 640-4.
78) 78. Wong ACC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, et al. Molecular characterization of a 130-kb terminal microdeletion at 22 q in a child with mild mental retardation. Am J Hum Genet 1997; 60: 113-20.
79) Horsley SW, Knight SJ, Nixon J, Huson S, Fitchett M, Boone RA, et al. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J Med Genet 1998; 35: 722-6.
80) Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, et al. Two 22q telomere deletions serendipituosly detected by FISH. J Med Genet 1998; 35: 939-42.
81) Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet 1998; 6: 439-44.
82) Reddy KS, Fugate JK. A half cryptic derivative der 18;t(5;18);pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements. Clin Genet 1999; 56: 328-32.
83) Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, et al. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3);. Am J Hum Genet 2000; 66: 16-25.
84) Lorda-Sánchez I, López-Pajares I, Roche MC, Sanz R, Rodríguez de Alba M, González-González MC, et al. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child. Am J Med Genet 2000; 95: 336-8.
85) Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, et al. Identification of a subtle t(16;19;(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 2000; 8: 903-10.
86) Speleman F, Callens B, Logghe K, Van Roy N, Horsley Sw, Jauch A, et al. Subtelomeric familial translocation t(2;7;(q37;q35; leading to partial trisomy 7q35(r)qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am J Med Genet 2000; 93: 349-54.
87) Warburton P, Mohammed S, Ogilvie CM. Detection of submicroscopic subtelomeric chromosome translocations: A new case study. Am J Med Genet 2000; 91: 51-5.
88) Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers Jm, Smeets D. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet 2000; 8: 637-40.
89) De Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, et al. Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13) Am J Med Genet 2001; 99: 314-9.
90) Schultz Ln, Schmidt P, Tabor A, Bryndorf T, Christesen B, Ludsteen C. Cryptic familial t11;18;(q25;q23) incidentally detected by interphase FISH. Clin Genet 2001; 59: 279-83.
91) Turpin R, Lejeune J. Les anomalies humaines congénitales par aberrations chromosomiques. Maandschr Kindergenees-kunde 1961; 29: 149-73.
2) Seguin E. Le traitement moral, l'hygiène et l'éducation des idiots. Paris: Baillière, JB, 1846: 1.
3) Langdon-Down JH. Observations on an ethnic classification of idiots. Clinical Lectures and Reports. London Hosp 1866; 3: 259-62.
4) Waardenburg PJ. Mongolismus. In: Das Menschliche Auge und seine Erhanlagen. La Haya: Nijhoff, 1932: 44-8.
5) Turpin R, Caratzali A, Rogier H. Étude étiologique de 104 cas de mongolisme et considérations sur la pathogénie de cette maladie. Congrès de la Federation Internationale Latine des Sociétés d'Eugénique, 1. Paris: Masson, 1937: 154-64.
6) Turpin R. L'hérédité des prédispositions morbides. Paris: Gallimard, 1951; p. 261.
7) Drets Me, Navarro A, Ravera J, Muxi J, Touya F. Estudio del cariotipo en algunas disgenesias gonadales. Ann Fac Med (Montevideo), 1964; 49: 411-6.
8) Lejeune J. Leçon Inaugurale par le Professeur Jérôme Lejeune. Chaire de Génétique Fondamentale. Faculté de Médecine de Paris. Sem Hopit 1965; 22: 1339-46.
9) Lejeune J, Gauthier M, Turpin R. Les chromosomes humains en culture de tissus. CR Acad Sci (Paris) 1959; 248: 602-3.
10) Lejeune J. Les chromosomes humains. Paris: Gauthier-Villars, 1965: 535.
11) Lejeune J. The study of gross chromosomal abnormalities. In: Krooth RS, ed. Somatics Cell Genetics Macy Conference of Genetics, 4. Ann Arbor: University Michigan Press, 1964: 1-10.
12) Patau K. The identification of individual chromosomes, especially in man. Am J Hum Genet 1960; 12: 250-76.
13) Patau K. Chromosome identification and the Denver report. Lancet 1961; I: 933-4.
14) Patau K. Polémica pública sobre la presentación de Lejeune J. "The study of gross chromosomal abnormalities". In: Krooth RS, ed. Somatics Cell Genetics Macy Conference of Genetics, 4. Ann Arbor: University Michigan Press, 1964: 11-122.
15) Patau K. Identification of chromosomes. In: Yunis JJ, ed. Human chromosome methodology. New York: Academic Press, 1965: 155-86.
16) Lejeune J, Gauthier M, Turpin R. Étude des chromosomes somatiques de neuf enfants mongoliens. CR Acad Sci (Paris) 1959; 248: 1721-2.
17) Lejeune J, Turpin R, Gauthier M. Le mongolisme, premier exemple d'aberration autosomique humaine. Sem Hopit 1959; 2: 41-9.
18) Ramón-Guerra AU, Drets ME. Recuento cromosómico en un caso de mongolismo y en un mongólico con anemia aplásica. Arch Pediatr Uruguay. 1962; 33: 224-30.
19) Drets ME, Cardoso H. Karyotyping in class. Lancet 1968; 1:1376.
20) Caspersson T, Farber S, Foley GE, Kudynowski J, Modest Ej, Simonsson E, et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res 1968; 49: 219-22.
21) Caspersson T, Zech L, Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res 1970; 60: 315-9.
22) Caspersson T, Lomakka G, Zech L. The 24 fluorescent patterns of the human metaphase chromosomes - distinguishing characters and variability. Hereditas 1971; 67: 89-102.
23) Weisblum B, De Haseth Pl. Quinacrine, chromosome stain specific for deoxyadenylate-deoxythymidylate-rich regions in DNA. Proc Natl Acad Sci USA 1972; 69: 629-32.
24) Pardue ML, Gall JG. Chromosomal localization of mouse satellite DNA. Science 1970; 168: 1356-8.
25) Arrighi FE, Hsu TC. Localization of heterochromatin in human chromosomes. Cytogenetics 1971; 10: 81-6.
26) Craig-Holmes AP, Moore FB, Shaw MW. Polymorphism of human C-band heterochromatin. I. Frequency of variants. Amer J Hum Genet 1973; 25: 181-92.
27) Stern C. Principles of Human Genetics. San Francisco: Freeman, Principios de Genética Humana. (Traducción: Drets, ME). Buenos Aires: El Ateneo, 1963: 1-830.
28) Drets ME. Methods of improvement of human chromosome morphology. Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1970: 9-10.
29) Drets ME. Specific Banding Patterns of Human Chromosomes Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1971a: 1.
30) Drets ME. Specific Banding Patterns of Human Chromosomes Quaterly Research Report of Section of Medical Genetics. Houston: MD Anderson Hospital and Tumor Institute 1971b:1-8.
31) Drets ME, Shaw MW. Specific banding patterns of human chromosomes. Proc Natl Acad Sci, USA, 1971: 68, 9: 2073-7.
32) Paris Conference. Standardization in human cytogenetics. Cytogenetics 1971; 11: 313-62.
33) Dutrillaux B, Lejeune J. Sur une nouvelle technique d'analyse du caryotype humain. Compt Rend Acad Sci Paris 1971; 272: 2638-40.
34) Seabright M. Rapid banding technique for human chromosomes. Lancet 1971; 2: 971.
35) Dutrillaux B. Nouveau système de marquage chromosomique: les bandes T. Chromosoma 1973; 41: 395-402.
36) Therman E, Susman, M. Human Chromosomes Structure, Behavior and Effects. Berlín:Springer, 3rd. ed. 1993: 1-376; Cromosomas Humanos. Estructura, Comportamiento y Efectos. Brasil: Soc Bras Gen, ed. (Traducción: Drets, ME) 1996: 1-383.
37) Blackburn EH, Gall JG. A tandemly repeated sequence at the termini of the extrachromosomal ribosomal RNA genes in Tetrahymena. J Mol Biol 1978; 120: 33-53.
38) Holmquist Gp. Chromosome bands, their chromatin flavors and their functional features. Am Hum Genet 1992; 51:17-37.
39) Denver Report. A proposed standard system of nomenclature of human mitotic chromosomes. J Hered 1960; 51: 221-41.
40) London Conference. The normal human karyotype. Cytogenetics 1963; 2: 264-8.
41) Chicago Conference. Standardization in human cytogenetics. Birth Defects, Original Article Series, New York: The National Foundation, March of Dimes, 1966; 2: 2.
42) Yunis JJ. High resolution of human chromosomes. Science 1976; 191: 1268-70.
43) ISCN An International System for Human Cytogenetic Nomenclature. High resolution banding. Cytogenet Cell Genet 1978; 21: 309-404.
44) ISCN An International System for Human Cytogenetic Nomenclature. In: Harnden DG, Klinger, HP eds. Report of the Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger, 1981: 117.
45) Drets ME. Human Chromosome Band Mapping. Lancet 1975; 1035.
46) Drets ME, Seuanez H. Quantitation of heterogeneous human heterochromatin microdensitometric analysis of C- and G-bands. In: Coutinho EM, Fuchs F, eds. Physiology and Genetics of Reproduction. Part A, New York: Plenum, 1973: 29-52.
47) Drets ME, Bandscan - A computer program for on-line linear scanning of human banded chromosomes. Comp Progr Biomed 1978; 8: 283-94.
48) Drets ME, Monteverde FJ. Automated cytogenetics with modern computerized scanning microscope photometer systems. In: Obe G, Basler A, eds. Cytogenetics: basic and applied aspects. Berlin: Springer, 1987: 48-64.
49) Drets ME, Folle GA, Monteverde FJ. Quantitative detection of chromosome structures by computerized microphotometer scanning. In: Obe G, Natarajan AT, eds. Chromosomal aberrations: basic and applied aspects. Berlin: Springer, 1989: 1-12.
50) Drets ME, Folle GA, Martínez W, Bonomi R, Duarte JE, Mechoso BH, et al. Quantitative localization of chromatid breaks induced by Alu I in the long arms of chromosome number 1 of Chinese hamster ovary (CHO) cells by microphotometric scanning. In: Obe G, Natarajan AT eds. Chromosome Aberrations, Origin and Significance. Berlin: Springer, 1994; 169-83.
51) Martínez-López W, Bonomi R, Folle GA, Drets ME. Microphotometric scanning of chromatid gaps and breaks induced by AluI y BamHI in Chinese hamster ovary cells. Braz Jour Genet 1996; 19: 577-82.
52) Drets ME, Drets GA, Queirolo PJ, Monteverde FJ. Computer graphics as a tool in cytogenetic research and education. Comp Appl Biosci, CABIOS First Byte. 1995; 11: 463-68.
53) Meyne J, Ratliff RL, Moyzis RK. Conservation of the human telomere sequence (TTAGGG) n among vertebrates. Proc Natl Acad Sci USA 1989; 89: 7049-53.
54) Allen TD, Jack EM, Harrison CJ. The three dimensional structure of human metaphase chromosomes determined by scanning electron microscopy, in: KW Adolph ed. Chromosomes and Chromatin. Florida: CRC Press Inc, 1988; 51-72.
55) Ludeña P, Sentis C, De Cabo F, Velázquez M, Fernández-Piqueras J. Visualization of R-bands in human metaphase chromosomes by the restriction endonuclease MseI. Cytogenet Cell Genet 1991; 57: 82-6.
56) Zakian VA. Structure and function of telomeres. Ann Rev Genet 1989; 23: 579-604.
57) Blackburn EH, Greider CW. Telomeres. Monograph 29. Cold Spring Harbor Lab Press. 1995: 1-396.
58) Conforth MN, Eberle RL. Termini of human chromosomes display elevated rates of mitotic recombination. Mutagenesis 2001; 16: 85-9.
59) Riethman Hc, Xiang Z, Paul S, Morse E, Hu X-L, Flint J, et al. Integration of telomere sequences with the draft human genome sequence. Nature 2001; 409: 948-50.
60) Drets ME, Obe G, Monteverde FJ, Folle GA, Medina II, De Galvez MG, et al. Computerized graphic and light microscope analyses of T-banded chromosome segments of Chinese hamster ovary cells and human lymphocytes. Biol Zentbl 1992a; 111: 204-14.
61) Drets Me, Obe G, Folle Ga, Medina Ii, De Gálvez Gm, Duarte Je, et al. Appearance of "holes" in sub-telomeric regions of human and Chinese hamster ovary cell chromosomes by prolonged incubation in T-banding buffer followed by Giemsa staining. Braz J Genet 1992b; 15: 927-33.
62) Drets Me, Mendizábal M. The underlying structure of the subtelomeric segments detected by microphotometrical scanning and graphic image analysis. Fundamental and Molecular Mechanisms of Mutagenesis. Mutat Res 1998; 404: 13-6.
63) Obe G, Pfeiffer P, Savage JRK, Johannes C, Goedecke W, Jeppesen P, et al. Chromosomal Aberrations: Formation, Identification and Distribution. Mutat Res 2002 (en prensa).
64) Drets ME. Insights into the structure of the subtelomeric chromosome segments. Genet and Mol Biol 2000; 23: 1087-93.
65) Schubert I. Telomeric polymorphism in Vicia faba. Biol Zentrabl 1992; 111: 164-8.
66) Chong L, Van Steensel B, Broccoli D, Erdjument-Bromage H, Hanish J, Tempst P, et al. A human telomeric protein. Science 1995; 270: 1663-7.
67) Korenberg JR, Rykowski MC. Human genome organization: Alu, Lines and the molecular structure of metaphase chromosome bands. Cell 1988; 53: 391-400.
68) Watson JD, Crick FHC. Molecular structure of nucleic acids: A structure for deoxyribose nucleic acid. Nature 1953; 171: 737-8.
69) Gurdon JB. Transplanted nuclei and cell differentiation. Scient Am 1968; 219: 24-35.
70) The Human Genome. The Sequence of the Human Genome. Science 2001; 291: 1304-51; initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
71) Wettstein R. Genoma y Medicina. FEMI 2001; XI, 24-31.
72) Wettstein R. El impacto del conocimiento genómico en la Medicina. Biotecnología, ética médica y derecho. Los nuevos dilemas. Responsabilidad médica para el tercer milenio. Colección "Medicina y Derecho" II 2001; 107-24.
73) Newport J. Nuclear reconstitution in vitro: stages of assembly around protein-free DNA. Cell 1987; 48: 205-17.
74) Newport J, Spann T. Disassembly of the nucleus in mitotic extracts: membrane vesicularization, lamin disassembly, and chromosome condensation are independent processes. Cell 1987; 48: 219-30.
75) van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJR, Bik E, Hofker MH, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996; 5: 1997-2003.
76) Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, et al. A large family with subtelomeric translocation t(18;21;(q23;q22.1; and molecular breakpoint in the Down syndrome critical region. Hum Genet 1997; 100: 669-75.
77) Doheny KF, Mcdermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangements of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet 1997; 34: 640-4.
78) 78. Wong ACC, Ning Y, Flint J, Clark K, Dumanski JP, Ledbetter DH, et al. Molecular characterization of a 130-kb terminal microdeletion at 22 q in a child with mild mental retardation. Am J Hum Genet 1997; 60: 113-20.
79) Horsley SW, Knight SJ, Nixon J, Huson S, Fitchett M, Boone RA, et al. Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements. J Med Genet 1998; 35: 722-6.
80) Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, et al. Two 22q telomere deletions serendipituosly detected by FISH. J Med Genet 1998; 35: 939-42.
81) Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet 1998; 6: 439-44.
82) Reddy KS, Fugate JK. A half cryptic derivative der 18;t(5;18);pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements. Clin Genet 1999; 56: 328-32.
83) Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, et al. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3);. Am J Hum Genet 2000; 66: 16-25.
84) Lorda-Sánchez I, López-Pajares I, Roche MC, Sanz R, Rodríguez de Alba M, González-González MC, et al. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child. Am J Med Genet 2000; 95: 336-8.
85) Brown J, Horsley SW, Jung C, Saracoglu K, Janssen B, Brough M, et al. Identification of a subtle t(16;19;(p13.3;p13.3) in an infant with multiple congenital abnormalities using a 12-colour multiplex FISH telomere assay, M-TEL. Eur J Hum Genet 2000; 8: 903-10.
86) Speleman F, Callens B, Logghe K, Van Roy N, Horsley Sw, Jauch A, et al. Subtelomeric familial translocation t(2;7;(q37;q35; leading to partial trisomy 7q35(r)qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am J Med Genet 2000; 93: 349-54.
87) Warburton P, Mohammed S, Ogilvie CM. Detection of submicroscopic subtelomeric chromosome translocations: A new case study. Am J Med Genet 2000; 91: 51-5.
88) Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers Jm, Smeets D. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features. Eur J Hum Genet 2000; 8: 637-40.
89) De Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, et al. Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13) Am J Med Genet 2001; 99: 314-9.
90) Schultz Ln, Schmidt P, Tabor A, Bryndorf T, Christesen B, Ludsteen C. Cryptic familial t11;18;(q25;q23) incidentally detected by interphase FISH. Clin Genet 2001; 59: 279-83.
91) Turpin R, Lejeune J. Les anomalies humaines congénitales par aberrations chromosomiques. Maandschr Kindergenees-kunde 1961; 29: 149-73.
Publicado
2002-09-30
Cómo citar
1.
Drets ME. Una saga citogenética. Rev. Méd. Urug. [Internet]. 30 de septiembre de 2002 [citado 18 de diciembre de 2024];18(2):107-21. Disponible en: https://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/976
Sección
Trabajos de Revisión o Actualización y Puestas al día
