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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.

DOI:10.1136/jmg.25.1.25
PMID:2895188
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015417/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c0/1015417/39e048b7963f/jmedgene00063-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c0/1015417/39e048b7963f/jmedgene00063-0035-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b7c0/1015417/39e048b7963f/jmedgene00063-0035-a.jpg

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Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.

本文引用的文献

1
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.人类二氢蝶啶还原酶缺乏症分子缺陷的异质性
Biochem J. 1981 Sep 15;198(3):677-82. doi: 10.1042/bj1980677.
2
Prenatal determination of dihydropteridine reductase in a normal fetus at risk for malignant hyperphenylalaninemia.对有恶性高苯丙氨酸血症风险的正常胎儿进行产前二氢蝶啶还原酶测定。
Prenat Diagn. 1983 Jan;3(1):7-11. doi: 10.1002/pd.1970030103.
3
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
二氢蝶啶还原酶缺乏症的成功治疗，以及5-羟色氨酸缺乏对睡眠模式的有趣影响。
J Inherit Metab Dis. 1991;14(1):49-52. doi: 10.1007/BF01804388.
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
4
Letter: A new molecular defect in phenylketonuria.信函：苯丙酮尿症的一种新的分子缺陷。
Lancet. 1974 Dec 28;2(7896):1580. doi: 10.1016/s0140-6736(74)90337-7.
5
A small-scale five-hour procedure for isolating multiple samples of CsCl-purified DNA: application to isolations from mammalian, insect, higher plant, algal, yeast, and bacterial sources.一种用于分离多个氯化铯纯化DNA样本的小规模五小时程序：应用于从哺乳动物、昆虫、高等植物、藻类、酵母和细菌来源进行分离。
Anal Biochem. 1986 Feb 1;152(2):376-85. doi: 10.1016/0003-2697(86)90423-9.
6
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.蝶啶疗法在四氢生物蝶呤缺乏症中的临床作用。
J Inherit Metab Dis. 1985;8 Suppl 1:39-45. doi: 10.1007/BF01800658.
7
Differential diagnosis of tetrahydrobiopterin deficiency.四氢生物蝶呤缺乏症的鉴别诊断。
J Inherit Metab Dis. 1985;8 Suppl 1:34-8. doi: 10.1007/BF01800657.
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9
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10
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