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Cuenca Berger, P.; Morales Montero, F.; Castro Volio, I.; Del Valle Carazo, G.; Brian Gago, R.; Sittenfeld Appel, M.
Universidad de Costa Rica, Costa Rica (Costa Rica). Vicerrectoria de Investigacion2003
Universidad de Costa Rica, Costa Rica (Costa Rica). Vicerrectoria de Investigacion2003
AbstractAbstract
No abstract available
Original Title
Prevencion de las enfermedades neurologicas discapacitantes causadas por mutaciones inestables mediante diagnostico molecular y consejo genetico
Primary Subject
Source
Memoria de las jornadas academicas; (2003issue); 2003; 1 p; Universidad de Costa Rica; San Jose (Costa Rica); Available fron Biblioteca Luis Demetrio Tinoco, Universidad de Costa Rica; Publication consists of 83 p., article on p. 78
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Miscellaneous
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INIS IssueINIS Issue
AbstractAbstract
No abstract available
Original Title
Avaliacao de metodos diagnosticos moleculares para identificacao de diferentes populacoes celulares em portadores normais e afetados pela Sindrome FRAXA
Primary Subject
Source
46. Brazilian national congress on genetics; 46. Congresso nacional de genetica; Aguas de Lindoia, SP (Brazil); 19-23 Sep 2000
Record Type
Journal Article
Literature Type
Conference
Journal
Genetics and Molecular Biology; ISSN 1415-4757;
; v. 23(3,suppl.); p. 300

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AbstractAbstract
[en] Base substitution mutations are far more common in human males than in females, and the frequency increases with paternal age. Both can be accounted for by the greater number of pre-meiotic cell divisions in males, especially old ones. In contrast, small deletions do not show any important age effect and occur with approximately equal frequency in the two sexes. Mutations in most genes include both types, and the sex and paternal age effect depends on the proportion of the two types. A few traits, of which Apert Syndrome is best understood, are mutation hot spots with all the mutations occurring in one or two codons, usually at one nucleotide. They occur with very high frequency almost exclusively in males and the frequency increases rapidly with paternal age. It has been suggested that the mutant cells have a selective advantage in the male germ-line prior to meiosis. Evidence for this surprising, but important, hypothesis is discussed. A possible mechanism is the conversion of asymmetrical stem-cell divisions into symmetric ones. Some traits with complex etiology show a slight paternal age effect. There is also a short discussion of the high deleterious mutation rate and the role of sexual reproduction in reducing the consequent mutation load. (author)
Primary Subject
Source
International symposium on transmissible genetic risk and our future; Osaka (Japan); 19 Mar 2005
Record Type
Journal Article
Literature Type
Conference
Journal
Journal of Radiation Research; ISSN 0449-3060;
; v. 47(suppl.B); p. B75-B82

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David L. Nelson
Baylor College (United States). Funding organisation: USDOE Office of Energy Research (ER) (United States)1997
Baylor College (United States). Funding organisation: USDOE Office of Energy Research (ER) (United States)1997
AbstractAbstract
[en] Oak 270 - Mapping and Ordered Cloning of the Human X Chromosome
Primary Subject
Source
1 Dec 1997; [vp.]; FG03-94ER61830; Available from Oakland Operations Office, Oakland, CA
Record Type
Miscellaneous
Country of publication
Reference NumberReference Number
INIS VolumeINIS Volume
INIS IssueINIS Issue
Muehlmann-Diaz, M.C.
Colorado State Univ., Fort Collins, CO (United States)1993
Colorado State Univ., Fort Collins, CO (United States)1993
AbstractAbstract
[en] The possible influence of chromatic structure or activity on chromosomal radiosensitivity was studied. A cell line was isolated which contained some 105 copies of an amplified plasmid in a single large mosquito artificial chromosome (MAC). This chromosome was hypersensitive to DNase I. Its radiosensitivity was some three fold greater than normal mosquito chromosomes in the same cell. In cultured human cells irradiated during G0, the initial breakage frequency in chromosome 4, 19 and the euchromatic and heterochromatic portions of the Y chromosome were measured over a wide range of doses by inducing Premature Chromosome Condensation (PCC) immediately after irradiation with Cs-137 gamma rays. No evidence was seen that Y heterochromatin or large fragments of it remained unbroken. The only significant deviation from the expected initial breakage frequency per Gy per unit length of chromosome was that observed for the euchromatic portion of the Y chromosome, with breakage nearly twice that expected. The development of aberrations involving X and Y chromosomes at the first mitosis after irradation was also studied. Normal female cells sustained about twice the frequency of aberrations involving X chromosomes for a dose of 7.3 Gy than the corresponding male cells. Fibroblasts from individuals with supernumerary X chromosomes did not show any further increase in X aberrations for this dos. The frequency of aberrations involving the heterochromatic portion of the long arm of the Y chromosome was about what would be expected for a similar length of autosome, but the euchromatic portion of the Y was about 3 times more radiosensitive per unit length. 5-Azacytidine treatment of cultured human female fibroblasts or fibroblasts from a 49,XXXXY individual, reduced the methylation of cytosine residues in DNA, and resulted in an increased chromosomal radiosensitivity in general, but it did not increase the frequency of aberrations involving the X chromosomes
Primary Subject
Source
1993; 266 p; Colorado State Univ; Fort Collins, CO (United States); Available from University Microfilms, P.O. Box 1764, Ann Arbor, MI 48106 (United States). Order No. 94-02,266; Thesis (Ph.D.).
Record Type
Miscellaneous
Literature Type
Thesis/Dissertation
Country of publication
Reference NumberReference Number
INIS VolumeINIS Volume
INIS IssueINIS Issue
Cuenca Berger, P.; Morales Montero, F., E-mail: pcuencaatcariari.ucr.ac.cr1999
AbstractAbstract
[en] Unstable mutations or amplification of triplets constitute a kind of genetic alteration discovered during the last decade. They had been found inside or near genes important for the normal neurological function of the human being. In some cases, the presence of the amplification causes the inactivation of the gene or the synthesis of a new product which functions different from the original protein. Some common characteristics of diseases caused by the amplification of triplets are that it affects the nervous system and are degenerative in nature. The expression of the manifestations varies according to age. Most of them show genetic anticipation in which the severity of the manifestations increases with each generation and appear at an earlier age. In most cases, the severity of the symptoms is correlated positively to the size of the amplification. The diagnosis of an affected individual in a family may indicate the presence of an altered gene in other relatives. These relatives may not present evident signs of the illness either because it is of late onset or because they carry premutations. The molecular diagnosis of these mutations is important to estimate the risk of developing the disease and/or of transmitting the illness to the descendants and to eliminate the fears of healthy relatives who have inherited normal copies of the gene. (Author)
[es]
Las mutaciones inestables o amplificacion de tripletas constituyen un tipo de alteracion genetica descubierto durante la ultima decada. En condiciones normales, regiones especificas de algunos genes estan constituidas por repeticiones de una tripleta de nucleotidos como por ejemplo CAG, CGG, etc. Este nuevo tipo de mutacion consiste en un aumento en la cantidad de repeticiones lo que causa una alteracion en la expresion de dichos genes. Se les llama inestables porque se ha observado que el tamano de la secuencia repetida varia cuando las celulas se dividen por meiosis o por mitosis. Esto tiene implicaciones sobre la herencia de la enfermedad y el consiguiente consejo genetico y explica, en alguna medida el caracter degenerativo de estas patologias. Se han encontrado estas mutaciones dentro o cerca de genes importantes para la funcion neurologica normal del ser humano. La presencia de la amplificacion puede causar la inactivacion del gen, alterar el transporte de los ARNm desde el nucleo al citoplasma o provocar la sintesis de un nuevo producto con funciones diferentes a la proteina original. Algunas caracteristicas comunes de las enfermedades causadas por estas mutaciones son que afectan el sistema nerviosos y son degenerativas. La expresion de las manifestaciones clinicas depende de la edad. En su mayoria presentan el fenomeno de anticipacion genetica, en el cual las manifestaciones clinicas son mas severas y se inician a edades mas tempranas a traves de las generaciones en una misma familia. La severidad de los sintomas correlacionan en la mayoria de los casos en forma positiva con la cantidad de repeticiones de la tripleta correspondiente. La aparicion de un individuo afectado en una familia puede indicar la presencia de familiares asintomaticos que porten el gen alterado, ya sea porque es de manifestacion tardia, o porque son portadores de premutaciones. El diagnostico molecular de estas mutaciones permite estimar el riesgo que tiene desarrollar el cuadro clinico, de procrear individuos afectados y eliminar los temores de los familiares sanos que han heredado copias normales del gen. (Author)Original Title
Mutaciones inestables: causa de algunas enfermedades neurologicas hereditarias
Primary Subject
Source
Also available from Biblioteca Luis Demetrio Tinoco, Universidad de Costa Rica; Tabs., refs. ills.,
Record Type
Journal Article
Journal
Acta Medica Costarricense; ISSN 0001-6012;
; v. 41(2); p. 7-15

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AbstractAbstract
No abstract available
Original Title
Sindrome de Rett: achados clinicos, geneticos e por ressonancia magnetica
Primary Subject
Source
Available from http://www.scielo.br/pdf/rb/v42n4/v42n4a18.pdf; Tese (Ph.D.)
Record Type
Journal Article
Journal
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LanguageLanguage
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AbstractAbstract
[en] Cases of cranio-facial bone anomalies were observed in 40 cases of neurofibromatosis. The cranio-facial skeletal manifestations are numerous and varied. Radiographic investigation is important to confirm the diagnosis, when neurologic and cutaneous signs are absent. The diagnosis should be easily confirmed by a conventional radiographic study. (authors). 14 refs., 7 figs., 2 tabs
Original Title
Les anomalies osseuses cranio-faciales dans la neurofibromatose de Von Recklinghausen
Primary Subject
Record Type
Journal Article
Journal
Annales de Radiologie Medecine Nucleaire - Revue d'Imagerie Medicale; ISSN 0003-4185;
; CODEN ANLRAT; v. 38(3); p. 139-144

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Weith, A.; Brodeur, G.M.; Bruns, G.A.P.; Matise, T.C.; Mischke, D.; Nizetic, D.; Seldin, M.F.; van Roy, N.; Vance, J.
Duke University, Durham, North Carolina (United States). Funding organisation: US Department of Energy (United States)1996
Duke University, Durham, North Carolina (United States). Funding organisation: US Department of Energy (United States)1996
AbstractAbstract
No abstract available
Primary Subject
Source
1 Jan 1996; 42 p; FG05-95ER62044; Available from Cytogenetics and Cell Genetics (1996): 114-154
Record Type
Miscellaneous
Report Number
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Lin, Jaime; Souza-Lin, Gigliolle Romancini de; Antunes, Fernanda Coan; Wessler, Letícia Burato; Streck, Emílio Luiz; Gonçalves, Cinara Ludvig, E-mail: fernandacoan@hotmail.com2020
AbstractAbstract
[en] Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion. (author)
Primary Subject
Source
Available from: https://www.scielo.br/pdf/eins/v18/2317-6385-eins-18-eRC5335.pdf; This record replaces 51105732
Record Type
Journal Article
Journal
Einstein (Online); ISSN 2317-6385;
; v. 18(eRC5335); 5 p

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