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Hum Mutat ; 41(1): 129-132, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31529753

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Variação Genética , Glucoquinase/genética , Íntrons , Splicing de RNA , Mutação Silenciosa , Adolescente , Adulto , Alelos , Substituição de Aminoácidos , Criança , Pré-Escolar , Cromossomos Humanos Par 7 , Diabetes Mellitus Tipo 2/diagnóstico , Éxons , Feminino , Frequência do Gene , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Masculino , Mutação , Adulto Jovem
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