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Molecular analysis of a patient with hydrops fetalis caused by β‐glucuronidase deficiency, and evidence for additional pseudogenes
Author(s) -
Vervoort R.,
Lissens W.,
Liebaers I.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020604
Subject(s) - pseudogene , biology , hydrops fetalis , gene , genetics , mutation , genomic dna , transition (genetics) , microbiology and biotechnology , fetus , genome , pregnancy
A patient with hydrops fetalis caused by β‐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 β‐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. © 1993 Wiley‐Liss, Inc.