Svirklys L G, Wilcken B, Hammond J, Mackinlay A G, O'Sullivan W J
School of Biochemistry, University of New South Wales, Australia.
Arch Dis Child. 1988 Mar;63(3):297-302. doi: 10.1136/adc.63.3.297.
Six families with at least one infant each with confirmed ornithine transcarbamylase deficiency were investigated by DNA analysis. All the affected sons had died, and no DNA had been stored. Using the restriction endonucleases MspI and Bam HI three restriction fragment length polymorphisms were detected which led to eight distinct haplotypes. Using these results and those of protein loading tests that diagnosed heterozygote (carrier) status in some family members, some carriers were detected, and prenatal diagnosis was offered to two families. In two further families no polymorphisms were found and no prenatal diagnosis was possible. In the remaining two families prenatal diagnosis was impossible because of the lack of DNA from an affected or unaffected son, or in one case from the father, of an obligate carrier. These studies emphasise the importance of preserving tissue for DNA extraction from infants dying of inborn errors of metabolism, and also show the way in which information from conventional biochemical studies can complement diagnostic tests using DNA.
对六个家庭进行了DNA分析，每个家庭至少有一名确诊为鸟氨酸转氨甲酰酶缺乏症的婴儿。所有患病的儿子均已死亡，未保存DNA样本。使用限制性内切酶MspI和Bam HI检测到三种限制性片段长度多态性，产生了八种不同的单倍型。利用这些结果以及蛋白质负荷试验的结果（该试验诊断出一些家庭成员的杂合子（携带者）状态），检测到了一些携带者，并为两个家庭提供了产前诊断。在另外两个家庭中未发现多态性，无法进行产前诊断。在其余两个家庭中，由于缺乏患病或未患病儿子的DNA，或者在一个案例中缺乏一名必然携带者父亲的DNA，无法进行产前诊断。这些研究强调了保存组织以从死于先天性代谢缺陷的婴儿中提取DNA的重要性，同时也展示了传统生化研究信息如何补充使用DNA的诊断测试。
