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Título : Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: Report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay
Creador: Alcántara Ortigoza, Miguel Ángel
Nivel de acceso: Open access
Palabras clave : Alelos
Sistemas de Transporte de Aminoácidos Neutros - genética
Cistinosis - etiología
Cistinosis - genética
Exones
Genotipo
Humanos
México
Mutación
Linaje
Reacción en Cadena de la Polimerasa - métodos
Polimorfismo Conformacional Retorcido-Simple
Eliminación de Secuencia
Alleles
Amino Acid Transport Systems, Neutral - genetics
Cystinosis - etiology
Cystinosis - genetics
Exons
Genotype
Humans
Mexico
Mutation
Pedigree
Polymerase Chain Reaction - methods
Polymorphism, Single-Stranded Conformational
Sequence Deletion
Descripción : Objective: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients. Subjects and Methods: Eleven patients were included, nine presenting infantile nephropathic cystinosis and two siblings with the juvenile phenotype. The common 57-kb deletion was detected by multiplex PCR using large deletion marker-2 (LDM-2)/exon 4 set primers. Those alleles negative for 57-kb deletion were screened by single strand confirmation polymorphism (SSCP) and subsequent direct sequencing. Results: In our sample, five mutations previously reported are identified: 57-kb deletion, EX4_EX5del, c.985_986insA, c.357_360delGACT, and c.537_557del. We detect a false assignation of 57-kb deletion homozygous genotype by using the LDM-2/exon 4 primers. In addition, four novel and severe mutations are identified: c.379delC, c.1090_1093delACCAinsCG, c.986C>G (p.T216R), and c.400+5G>A. Conclusions: Our sample of Mexican patients display allelic heterogeneity as compared to European or North American cystinosis cases. The identification of novel mutations might suggest the presence of exclusive American CTNS alleles in Mexican population. In order to prevent the false positive assignation of 57-kb deletion genotype, as caused by the presence of another type of intragenic CTNS gross deletion, we propose to analyze a different control CTNS exon to those originally reported in both LDM multiplex PCR assays, especially when parental DNA samples are not available. © Copyright 2008, Mary Ann Liebert, Inc.
Colaborador(es) u otros Autores: Belmont-Martínez L.
Vela-Amieva M.
González-Del Angel A.
Fecha de publicación : 2008
Tipo de publicación: Artículo
Formato: pdf
Identificador del Recurso : 10.1089/gte.2008.0014
Fuente: Genetic Testing 12(3):409 - 414
URI : http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1448
Idioma: eng
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