Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53
2016
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- Autor(en) / Beteiligte
- Titel
- Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency
- Ist Teil von
- Zhonghua yi xue yi chuan xue za zhi, 2016-02, Vol.33 (1), p.53
- Ort / Verlag
- China
- Erscheinungsjahr
- 2016
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD). Targeted sequence capture and high-throughput sequencing technology was used to detect the exons and exon-intron boundaries of the PKLR gene in a clinically suspected PKD patient. Meanwhile, the genotype of the pedigree was validated by Sanger sequencing. Prenatal genetic diagnosis was performed by amniotic fluid sampling after genotype of the mother of the proband was determined. The proband was found to harbor double heterozygous mutations, c.661G>A (Asp221Asn) and c.1528C>T (Arg510Ter), which resulted in amino acid substitution Asp221Asn and Arg510Ter. Such mutations were confirmed by Sanger sequencing. The mother and father of the proband were detected to have respectively carried c.1528C>T (Arg510Ter) and c.661G>A (Asp221Asn) mutation. The fetus was found to have carried the same mutations as the proband. Following selected abortion, analysis of fetal tissue was consistent with the r
- Sprache
- Chinesisch
- Identifikatoren
- ISSN: 1003-9406DOI: 10.3760/cma.j.issn.1003-9406.2016.01.013Titel-ID: cdi_pubmed_primary_26829734
- Format
- –
- Schlagworte
- Adult, Anemia, Hemolytic, Congenital Nonspherocytic - embryology, Anemia, Hemolytic, Congenital Nonspherocytic - enzymology, Anemia, Hemolytic, Congenital Nonspherocytic - genetics, Base Sequence, Child, Preschool, DNA Mutational Analysis, Exons, Female, Genotype, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Pregnancy, Prenatal Diagnosis, Pyruvate Kinase - deficiency, Pyruvate Kinase - genetics, Pyruvate Kinase - metabolism, Pyruvate Metabolism, Inborn Errors - embryology, Pyruvate Metabolism, Inborn Errors - enzymology, Pyruvate Metabolism, Inborn Errors - genetics