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dc.creatorDeka, Ranjan
dc.creatorMajumder, Partha P.
dc.creatorShriver, Mark D.
dc.creatorStivers, David N.
dc.creatorZhong, Yixi
dc.creatorYu, Ling Mei
dc.creatorBarrantes Mesén, Ramiro
dc.creatorYin, Shih-Jiun
dc.creatorMiki, Tetsuro
dc.creatorHundrieser, Joachim
dc.creatorBunker, Clareann H.
dc.creatorMcGarvey, Stephen T.
dc.creatorSakallah, Sameer
dc.creatorFerrell, Robert E.
dc.creatorChakraborty, Ranajit
dc.date.accessioned2015-08-03T15:52:25Z
dc.date.available2015-08-03T15:52:25Z
dc.date.issued1996
dc.identifier.citationhttp://genome.cshlp.org/content/6/2/142es_ES
dc.identifier.issn1088-9051
dc.identifier.issn1549-5469
dc.identifier.urihttp://hdl.handle.net/10669/15159
dc.descriptionArtículo científico -- Instituto de Investigaciones en Salud. 1996es_ES
dc.description.abstractWe have analyzed the CTG repeat length and the neighboring Alu insertion/deletion (+/-) polymorphism in DNA samples from 16 ethnically and geographically diverse human populations to understand the evolutionary dynamics of the myotonic dystrophy-associated CTG repeat. Our results show that the CTG repeat length is variable in human populations. Although the (CTG)5 repeat is the most common allele in the majority of populations, this allele is absent among Costa Ricans and New Guinea highlanders. We have detected a (CTG)4 repeat allele, the smallest CTG known allele, in an American Samoan individual. (CTG) > or = 19 alleles are the most frequent in Europeans followed by the populations of Asian origin and are absent or rare in Africans. To understand the evolution of CTG repeats, we have used haplotype data from the CTG repeat and Alu(+/-) locus. Our results are consistent with previous studies, which show that among individuals of Caucasian and Japanese origin, the association of the Alu(+) allele with CTG repeats of 5 and > or = 19 is complete, whereas the Alu(-) allele is associated with (CTG)11-16 repeats. However, these associations are not exclusive in non-Caucasian populations. Most significantly, we have detected the (CTG)5 repeat allele on an Alu(-) background in several populations including Native Africans. As no (CTG)5 repeat allele on an Alu(-) background was observed thus far, it was proposed that the Alu(-) allele arose on a (CTG)11-13 background. Our data now suggest that the most parsimonious evolutionary model is (1) (CTG)5-Alu(+) is the ancestral haplotype; (2) (CTG)5-Alu(-) arose from a (CTG)5-Alu(+) chromosome later in evolution; and (3) expansion of CTG alleles occurred from (CTG)5 alleles on both Alu(+) and Alu(-) backgrounds.en_US
dc.description.sponsorshipUniversidad de Costa Rica, Instituto de Investigaciones en Saludes_ES
dc.language.isoen_USes_ES
dc.sourceGenome Reserach 6: 142-154es_ES
dc.subjectpolimorfismoes_ES
dc.subjectMyotonin Protein Kinasees_ES
dc.subjectCTGes_ES
dc.subjectetniaes_ES
dc.subjectHuman geneticses_ES
dc.titleDistribution and Evolution of CTG Repeats at the Myotonin Protein Kinase Gene in Human Populationses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.typeArtículo científicoes_ES
dc.identifier.doi10.1101/gr.6.2.142
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)es_ES


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