[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
Copyright policy )[Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
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 result of prenatal diagnosis.The compound mutations of c.661G>A and c.1528C>T of PKLR gene probably underlie the PKD in the family. Prenatal diagnosis of the mutations analysis can facilitate detection of affected fetus in time.
- Bethune International Peace Hospital China (People's Republic of)
Adult, Male, Base Sequence, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Pyruvate Kinase, Anemia, Hemolytic, Congenital Nonspherocytic, Exons, Pyruvate Metabolism, Inborn Errors, Pedigree, Pregnancy, Child, Preschool, Prenatal Diagnosis, Mutation, Humans, Female
Adult, Male, Base Sequence, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Pyruvate Kinase, Anemia, Hemolytic, Congenital Nonspherocytic, Exons, Pyruvate Metabolism, Inborn Errors, Pedigree, Pregnancy, Child, Preschool, Prenatal Diagnosis, Mutation, Humans, Female
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