Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

Prenatal Diagnosis

Volumn 21, Issue 10, 2001, Pages 868-870

  Kalkanoǧlu, H Serap ^a,b   Romstad, Anne ^a   Coşkun, Turgay ^a   Gttler, Flemming ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

Denaturing gradient gel electrophoresis (DGGE); Dihydropteridine reductase (DHPR) deficiency; Prenatal diagnosis

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; NEUROTRANSMITTER; OXYGENASE; PTERIN; TETRAHYDROBIOPTERIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; FETUS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTRON; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

ALLELES; CHORIONIC VILLI SAMPLING; DIHYDROPTERIDINE REDUCTASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; FETAL DISEASES; HETEROZYGOTE; HUMANS; MICROSATELLITE REPEATS; PEDIGREE; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN DENATURATION;

EID: 0035160879     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.161     Document Type: Article

References (8)

1. Disorders of tetrahydrobiopterin and related biogenic amines
2. Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia
3. Simultaneous detection of DNA and RNA by differential polymerase chain reaction (DIFF-PCR)
4. Validation of highly discriminating multiplex short tandem repeat amplification systems for individual amplification
5. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
6. Prenatal diagnosis of DHPR deficiency by direct detection of mutation