title: [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
abstract: OBJECTIVE
  To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Hematology, Bethune International Peace Hospital of PLA, Shijiazhuang, Hebei 050082, China. ldle2008@sina.com.
authors.forename: Dongliang
authors.initials: D
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Baoquan
authors.initials: B
authors.lastname: Jiao
authors.forename: Yanli
authors.initials: Y
authors.lastname: Liu
authors.forename: Youjun
authors.initials: Y
authors.lastname: Wang
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Wang
authors.forename: Wenjing
authors.initials: W
authors.lastname: Li
authors.forename: Lanfen
authors.initials: L
authors.lastname: Hou
authors.forename: Yu
authors.initials: Y
authors.lastname: Sun
authors.forename: Hongmou
authors.initials: H
authors.lastname: Guo
authors.forename: Xiao
authors.initials: X
authors.lastname: Guo
mesh_terms: D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000196:embryology / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D015323:Pyruvate Metabolism, Inborn Errors / Q000196:embryology / Q000201:enzymology* / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase