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Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.

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Title: Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.
Alternate Title: Alelos intermedios y expandidos en el gen FMR1 en una población con autismo de Costa Rica.
Authors: Vindas-Smith, Rebeca1 rebeca.vindas@ucr.ac.cr, Sequeira-Cordero, Andrey1, Castro-Volio, Isabel1, Jiménez-González, Patricia2, Cuenca, Patricia1, Saborío-Rocafort, Manuel2, Fallas, Marietha2, Vásquez, Melissa1
Source: Revista Mexicana de Neurociencia. Mar/Apr2022, Vol. 23 Issue 2, p51-56. 6p.
Subjects: AUTISM spectrum disorders, FRAGILE X syndrome, FMR protein, POLYMERASE chain reaction, SOUTHERN blot
Abstract (English): Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 943 male newborn controls were screened by means of polymerase chain reaction to determine the frequency of intermediate, premutation, and full mutation FMR1 alleles. Full mutation suspected cases were confirmed by Southern blot analyses. Frequencies of FMR1 alleles in the case group were compared with frequencies observed in a population-based sample of male newborn controls. results: A significant excess of intermediate allele carriers was found in ASD individuals as compared to controls (χ² test, p < 0.001). Four, out of 188 males in the case group, were identified as full mutation carriers. Conclusions: Our results suggest a possible involvement of the gray zone or intermediate alleles in ASD. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Objetivo: Determinar la distribución de los alelos FMR1 intermedios y expandidos en individuos costarricenses diagnosticados con autismo. Materiales y métodos: Para determinar la frecuencia de la mutación intermedia, la premutación y la mutación completa en el gen FMR1, se tamizaron 212 casos con autismo y 943 recién nacidos de sexo masculino como controles. Los casos con sospecha de ser portadores de la mutación completa se confirmaron mediante análisis de transferencia de Southern. Las frecuencias de los alelos del gen FMR1 en el grupo de casos se compararon con las frecuencias observadas en una muestra basada en la población de controles de recién nacidos varones. resultados: Se encontró un exceso significativo de portadores de alelos intermedios en los individuos con autismo en comparación con los controles (χ², p < 0.001). Cuatro varones del grupo de casos fueron identificados como portadores de la mutación completa. Conclusiones: Nuestros resultados sugieren una posible participación de los alelos intermedios en el autismo. [ABSTRACT FROM AUTHOR]
Copyright of Revista Mexicana de Neurociencia is the property of Academia Mexicana de Neurologia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.
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  Data: Alelos intermedios y expandidos en el gen FMR1 en una poblaci&#243;n con autismo de Costa Rica.
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  Data: &lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Vindas-Smith%2C+Rebeca%22&quot;&gt;Vindas-Smith, Rebeca&lt;/searchLink&gt;&lt;relatesTo&gt;1&lt;/relatesTo&gt;&lt;i&gt; rebeca.vindas@ucr.ac.cr&lt;/i&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Sequeira-Cordero%2C+Andrey%22&quot;&gt;Sequeira-Cordero, Andrey&lt;/searchLink&gt;&lt;relatesTo&gt;1&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Castro-Volio%2C+Isabel%22&quot;&gt;Castro-Volio, Isabel&lt;/searchLink&gt;&lt;relatesTo&gt;1&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Jim&#233;nez-Gonz&#225;lez%2C+Patricia%22&quot;&gt;Jim&#233;nez-Gonz&#225;lez, Patricia&lt;/searchLink&gt;&lt;relatesTo&gt;2&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Cuenca%2C+Patricia%22&quot;&gt;Cuenca, Patricia&lt;/searchLink&gt;&lt;relatesTo&gt;1&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Sabor&#237;o-Rocafort%2C+Manuel%22&quot;&gt;Sabor&#237;o-Rocafort, Manuel&lt;/searchLink&gt;&lt;relatesTo&gt;2&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22Fallas%2C+Marietha%22&quot;&gt;Fallas, Marietha&lt;/searchLink&gt;&lt;relatesTo&gt;2&lt;/relatesTo&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;AR&quot; term=&quot;%22V&#225;squez%2C+Melissa%22&quot;&gt;V&#225;squez, Melissa&lt;/searchLink&gt;&lt;relatesTo&gt;1&lt;/relatesTo&gt;
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  Data: &lt;searchLink fieldCode=&quot;JN&quot; term=&quot;%22Revista+Mexicana+de+Neurociencia%22&quot;&gt;Revista Mexicana de Neurociencia&lt;/searchLink&gt;. Mar/Apr2022, Vol. 23 Issue 2, p51-56. 6p.
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22AUTISM+spectrum+disorders%22&quot;&gt;AUTISM spectrum disorders&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22FRAGILE+X+syndrome%22&quot;&gt;FRAGILE X syndrome&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22FMR+protein%22&quot;&gt;FMR protein&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22POLYMERASE+chain+reaction%22&quot;&gt;POLYMERASE chain reaction&lt;/searchLink&gt;&lt;br /&gt;&lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22SOUTHERN+blot%22&quot;&gt;SOUTHERN blot&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Objective: We aimed to determine the distribution of intermediate and expanded FMR1 alleles in Costa Rican individuals diagnosed with autism. Materials and methods: A total of 212 autism spectrum disorder (ASD) cases of Costa Rican individuals and 943 male newborn controls were screened by means of polymerase chain reaction to determine the frequency of intermediate, premutation, and full mutation FMR1 alleles. Full mutation suspected cases were confirmed by Southern blot analyses. Frequencies of FMR1 alleles in the case group were compared with frequencies observed in a population-based sample of male newborn controls. results: A significant excess of intermediate allele carriers was found in ASD individuals as compared to controls (χ&#178; test, p &lt; 0.001). Four, out of 188 males in the case group, were identified as full mutation carriers. Conclusions: Our results suggest a possible involvement of the gray zone or intermediate alleles in ASD. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: Objetivo: Determinar la distribuci&#243;n de los alelos FMR1 intermedios y expandidos en individuos costarricenses diagnosticados con autismo. Materiales y m&#233;todos: Para determinar la frecuencia de la mutaci&#243;n intermedia, la premutaci&#243;n y la mutaci&#243;n completa en el gen FMR1, se tamizaron 212 casos con autismo y 943 reci&#233;n nacidos de sexo masculino como controles. Los casos con sospecha de ser portadores de la mutaci&#243;n completa se confirmaron mediante an&#225;lisis de transferencia de Southern. Las frecuencias de los alelos del gen FMR1 en el grupo de casos se compararon con las frecuencias observadas en una muestra basada en la poblaci&#243;n de controles de reci&#233;n nacidos varones. resultados: Se encontr&#243; un exceso significativo de portadores de alelos intermedios en los individuos con autismo en comparaci&#243;n con los controles (χ&#178;, p &lt; 0.001). Cuatro varones del grupo de casos fueron identificados como portadores de la mutaci&#243;n completa. Conclusiones: Nuestros resultados sugieren una posible participaci&#243;n de los alelos intermedios en el autismo. [ABSTRACT FROM AUTHOR]
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  Data: &lt;i&gt;Copyright of Revista Mexicana de Neurociencia is the property of Academia Mexicana de Neurologia and its content may not be copied or emailed to multiple sites without the copyright holder&#39;s express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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      – Type: doi
        Value: 10.24875/RMN.21000044
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      – Code: eng
        Text: English
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        PageCount: 6
        StartPage: 51
    Subjects:
      – SubjectFull: AUTISM spectrum disorders
        Type: general
      – SubjectFull: FRAGILE X syndrome
        Type: general
      – SubjectFull: FMR protein
        Type: general
      – SubjectFull: POLYMERASE chain reaction
        Type: general
      – SubjectFull: SOUTHERN blot
        Type: general
    Titles:
      – TitleFull: Intermediate and expanded FMR1 alleles in an autistic Costa Rican population.
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              M: 03
              Text: Mar/Apr2022
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              Y: 2022
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