Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.

Abstract

A patient with hydrops fetalis caused by beta-glucuronidase deficiency was found to be homozygous for a C to T transition at nucleotide position 672 in his cDNA. Genomic analysis showed the presence of pseudogenes for the beta-glucuronidase gene. After separation of PCR products of the gene and the pseudogenes it was shown that the patient and his father were heterozygous for the C-T 672 transition and the mother did not carry the mutation.

• Authors: R Vervoort, W Lissens, I Liebaers
• Journal: Human mutation (Hum Mutat) Vol. 2 Issue 6 Pg. 443-5 ( 1993) ISSN: 1059-7794 [Print] United States
• PMID: 8111412 (Publication Type: Journal Article)

Chemical References

• DNA
• Glucuronidase

Topics

• Base Sequence
• DNA
• Glucuronidase (deficiency)
• Heterozygote
• Homozygote
• Humans
• Hydrops Fetalis (enzymology, genetics)
• Male
• Molecular Sequence Data
• Polymerase Chain Reaction
• Pseudogenes
• Sequence Homology, Nucleic Acid