限制性片段长度多态性在二氢蝶啶还原酶缺乏症产前诊断中的应用。
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
作者信息
Dahl H H, Wake S, Cotton R G, Danks D M
机构信息
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
出版信息
J Med Genet. 1988 Jan;25(1):25-8. doi: 10.1136/jmg.25.1.25.
Using a human dihydropteridine reductase (hDHPR) cDNA probe we have detected two AvaII and one MspI restriction fragment length polymorphisms (RFLPs). We show that these RFLPs are in disequilibrium and calculate that approximately 60% of Caucasians are heterozygous for at least one RFLP. We demonstrate the usefulness of these RFLPs in prenatal diagnosis of DHPR deficiency in one family. This disorder can also be predicted by enzyme assays and we therefore discuss the relative merits of the two methods of prenatal diagnosis.
利用人二氢蝶啶还原酶（hDHPR）cDNA探针，我们检测到两种AvaII和一种MspI限制性片段长度多态性（RFLP）。我们发现这些RFLP处于不平衡状态，并计算出约60%的高加索人至少对一种RFLP是杂合的。我们证明了这些RFLP在一个家庭中对二氢蝶啶还原酶缺乏症的产前诊断中的有用性。这种疾病也可以通过酶测定来预测，因此我们讨论了两种产前诊断方法的相对优点。
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