Your browser doesn't support javascript.
loading
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.
Article de Zh | WPRIM | ID: wpr-274015
Bibliothèque responsable: WPRO
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>
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Pyruvate kinase / Introns / Erreurs innées du métabolisme du pyruvate / Exons / Séquençage nucléotidique à haut débit / Génétique / Génotype / Anémie hémolytique congénitale non sphérocytaire / Mutation Limites du sujet: Humans langue: Zh Texte intégral: Journal of Experimental Hematology Année: 2015 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Pyruvate kinase / Introns / Erreurs innées du métabolisme du pyruvate / Exons / Séquençage nucléotidique à haut débit / Génétique / Génotype / Anémie hémolytique congénitale non sphérocytaire / Mutation Limites du sujet: Humans langue: Zh Texte intégral: Journal of Experimental Hematology Année: 2015 Type: Article