Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 53-56, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-247737
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Prenatal Diagnosis
/
Pyruvate Kinase
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Pyruvate Metabolism, Inborn Errors
/
Embryology
/
Exons
/
Genetics
Type of study:
Diagnostic study
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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