Abstract | BACKGROUND AND PURPOSE: METHODS: To determine whether mutation analysis could replace enzymatic analysis for the diagnosis of PH1, DNA samples from 127 consecutive unrelated patients in whom there was a high clinical suspicion of primary hyperoxaluria were analyzed for the presence of the G630A and T853C mutations, which together account for approximately 34% of the mutant alleles in our patient cohort. RESULTS AND CONCLUSIONS: The sensitivity of mutation detection was 47% in those patients with enzymologically confirmed Type 1 disease, showing that mutation analysis cannot effectively replace enzymology at the present time. However, there is little doubt of the value of genetic methods (mutation and linkage analysis) for diagnosing PH1 (and eventually PH2) in other family members and for prenatal diagnosis and carrier testing.
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Authors | G Rumsby |
Journal | Molecular urology
(Mol Urol)
Vol. 4
Issue 4
Pg. 349-54
( 2000)
ISSN: 1091-5362 [Print] United States |
PMID | 11156702
(Publication Type: Journal Article)
|
Chemical References |
- Genetic Markers
- Alcohol Oxidoreductases
- glyoxylate reductase
- Hydroxypyruvate Reductase
- Transaminases
- Alanine-glyoxylate transaminase
|
Topics |
- Alcohol Oxidoreductases
(metabolism)
- Alleles
- Biopsy
- Family Health
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Hydroxypyruvate Reductase
- Hyperoxaluria
(diagnosis, genetics)
- Hyperoxaluria, Primary
(diagnosis, genetics)
- Introns
- Liver
(enzymology)
- Male
- Microsatellite Repeats
- Mutation
- Pedigree
- Prenatal Diagnosis
- Recombination, Genetic
- Sensitivity and Specificity
- Transaminases
(genetics, metabolism)
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