一名因β-葡萄糖醛酸酶缺乏导致胎儿水肿患者的分子分析及其他假基因的证据。
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
作者信息
Vervoort R, Lissens W, Liebaers I
机构信息
Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.
出版信息
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。
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