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A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 1464-1468, 2015.
Artículo en Chino | WPRIM | ID: wpr-274015
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular mechanism of erythrocyte pyruvate kinase deficiency (PKD).</p><p><b>METHODS</b>Targeted sequence capture and next-generation sequencing (NGS) were used to detect the regions of exon and exon-intron boundarie of PKLR gene in a clinical suspected PKD patient. The protein function of mutant gene was forecasted by the SIFT and PolyPhen-2 databank, after the mutation of PKLR gene in the patient was detected by the NGS technology, its genotype was confirmed by Sanger sequencing.</p><p><b>RESULTS</b>The patient was found to have peculiar double heterozygous mutations 661 G>A (Asp221Asn) of exon 5 and 1528 C>T (Arg510Ter) of exon 10, resulting in amino acid substitution Asp221Asn and Arg510Ter, these mutations were also further confirmed by Sanger sequencing. The complex mutations were infrequent and each of them was able to cause diseases.</p><p><b>CONCLUSION</b>The complex mutations of both 661 G>A and 1528 C>T of PKLR gene are the molecular mechanism of PKD. Simultaneous existance of above-mentioned complex mutations in PDK patient was never been previously reported at home and abroad.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Piruvato Quinasa / Intrones / Errores Innatos del Metabolismo del Piruvato / Exones / Secuenciación de Nucleótidos de Alto Rendimiento / Genética / Genotipo / Anemia Hemolítica Congénita no Esferocítica / Mutación Límite: Humanos Idioma: Chino Revista: Journal of Experimental Hematology Año: 2015 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Piruvato Quinasa / Intrones / Errores Innatos del Metabolismo del Piruvato / Exones / Secuenciación de Nucleótidos de Alto Rendimiento / Genética / Genotipo / Anemia Hemolítica Congénita no Esferocítica / Mutación Límite: Humanos Idioma: Chino Revista: Journal of Experimental Hematology Año: 2015 Tipo del documento: Artículo