Vervoort R, Lissens W, Liebaers I
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
Hum Mutat. 1993;2(6):443-5. doi: 10.1002/humu.1380020604.
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.
一名因β-葡萄糖醛酸酶缺乏导致胎儿水肿的患者，其cDNA中核苷酸位置672处存在从C到T的转换，为纯合子。基因组分析显示存在β-葡萄糖醛酸酶基因的假基因。在分离该基因和假基因的PCR产物后发现，患者及其父亲在672位C-T转换上为杂合子，而母亲未携带该突变。
