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Hum Mutat ; 41(1): 129-132, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31529753

RESUMEN

The next-generation sequencing (NGS) has become a routine method for diagnostics of inherited disorders. However, assessment of the discovered variants may be challenging, especially when they are not predicted to change the protein sequence. Here we performed a functional analysis of 20 novel or rare intronic and synonymous glucokinase (GCK) gene variants identified by targeted NGS in 1,130 patients with maturity-onset diabetes of the young. Human Splicing Finder, ver 3.1 and a precomputed index of splicing variants (SPIDEX) were used for in silico prediction. In vitro effects of GCK gene variants on splicing were tested using a minigene expression approach. In vitro effect on splicing was shown for 9 of 20 variants, including two synonymous substitutions. In silico and in vitro results matched in about 50% of cases. The results demonstrate that novel or rare apparently benign GCK gene variants should be regarded as potential splicing mutations.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad , Variación Genética , Glucoquinasa/genética , Intrones , Empalme del ARN , Mutación Silenciosa , Adolescente , Adulto , Alelos , Sustitución de Aminoácidos , Niño , Preescolar , Cromosomas Humanos Par 7 , Diabetes Mellitus Tipo 2/diagnóstico , Exones , Femenino , Frecuencia de los Genes , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Mutación , Adulto Joven
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