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Clinical application of DNA analysis in a family with OTC deficiency.

作者信息

McClead R E, Rozen R, Fox J, Rosenberg L, Menke J, Bickers R, Morrow G

出版信息

Am J Med Genet. 1986 Nov;25(3):513-8. doi: 10.1002/ajmg.1320250313.

DOI:10.1002/ajmg.1320250313
PMID:2878615
Abstract

We describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported. DNA restriction fragment analysis may be a reliable technique for the prenatal diagnosis of OTC deficiency and identification of obligate carriers of this gene.

摘要

相似文献

1
Clinical application of DNA analysis in a family with OTC deficiency.
Am J Med Genet. 1986 Nov;25(3):513-8. doi: 10.1002/ajmg.1320250313.
2
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Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.日本早发性鸟氨酸转氨甲酰酶（OTC）缺乏症男性患者中四个新发现的OTC突变（D126G、R129H、I172M和W332X）
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The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.表面健康但为鸟氨酸转氨甲酰酶缺乏症携带者的女性的表型。
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DNA analysis of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的DNA分析
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Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.利用DNA多态性进行鸟氨酸转氨甲酰酶缺乏症的产前诊断。
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[Ornithine transcarbamylase deficiency].鸟氨酸转氨甲酰酶缺乏症
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Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
3
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.三名无关的鸟氨酸转氨甲酰酶缺乏症患者同一精氨酸密码子点突变的特征分析
J Clin Invest. 1988 Oct;82(4):1353-8. doi: 10.1172/JCI113738.
4
DNA analysis of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的DNA分析
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5
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.人类鸟氨酸转氨甲酰酶第109位残基上的精氨酸突变为谷氨酰胺，会使Cos1细胞中的酶活性完全丧失。
J Clin Invest. 1989 Dec;84(6):1762-6. doi: 10.1172/JCI114360.
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Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.一种部分显性X连锁疾病的携带者检测：鸟氨酸转氨甲酰酶缺乏症
Hum Genet. 1990 Jan;84(2):167-71. doi: 10.1007/BF00208934.
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A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.两名患有轻度鸟氨酸转氨甲酰酶缺乏症的无关男性患者中，鸟氨酸转氨甲酰酶基因第8外显子出现一种新的错义突变。
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Improved molecular diagnostics for ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的分子诊断技术改进
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