Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation

We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego...

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Autores principales: Sánchez-López, Josefina Y., Camacho-Torres, Ana L., Ibarra, Bertha, Tintos, Jesús A., Perea, Francisco J.
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036091/
https://www.ncbi.nlm.nih.gov/pubmed/21637597
http://dx.doi.org/10.1590/S1415-47572009005000109
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author Sánchez-López, Josefina Y.
Camacho-Torres, Ana L.
Ibarra, Bertha
Tintos, Jesús A.
Perea, Francisco J.
author_facet Sánchez-López, Josefina Y.
Camacho-Torres, Ana L.
Ibarra, Bertha
Tintos, Jesús A.
Perea, Francisco J.
author_sort Sánchez-López, Josefina Y.
collection PubMed
description We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions.
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spelling pubmed-30360912011-06-02 Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation Sánchez-López, Josefina Y. Camacho-Torres, Ana L. Ibarra, Bertha Tintos, Jesús A. Perea, Francisco J. Genet Mol Biol Human and Medical Genetics We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third, the HS phenotype could be explained by the novel 1885_1888dupCCGG mutation found in heterozygosis. This frameshift mutation is predicted to result in a truncated and unstable protein lacking normal functions. Sociedade Brasileira de Genética 2010 2010-03-01 /pmc/articles/PMC3036091/ /pubmed/21637597 http://dx.doi.org/10.1590/S1415-47572009005000109 Text en Copyright © 2010, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Human and Medical Genetics
Sánchez-López, Josefina Y.
Camacho-Torres, Ana L.
Ibarra, Bertha
Tintos, Jesús A.
Perea, Francisco J.
Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title_full Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title_fullStr Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title_full_unstemmed Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title_short Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation
title_sort analysis of the slc4a1 gene in three mexican patients with hereditary spherocytosis: report of a novel mutation
topic Human and Medical Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036091/
https://www.ncbi.nlm.nih.gov/pubmed/21637597
http://dx.doi.org/10.1590/S1415-47572009005000109
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