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通过DNA分析对经典型苯丙酮尿症进行产前诊断。

Prenatal diagnosis of classic phenylketonuria by DNA analysis.

作者信息

Lidsky A S, Güttler F, Woo S L

出版信息

Lancet. 1985 Mar 9;1(8428):549-51. doi: 10.1016/s0140-6736(85)91208-5.

DOI:10.1016/s0140-6736(85)91208-5
PMID:2857902
Abstract

Prenatal diagnosis of classic phenylketonuria (PKU) was performed in two at-risk families by means of a cloned human phenylalanine hydroxylase gene probe which was used to analyse DNA isolated from cultured amniotic fluid cells. The diagnoses of a PKU fetus in one family and a heterozygous fetus in another family were confirmed after birth. The prenatal diagnosis procedure by DNA analysis can be confidently applied to 90% of caucasian families with previously affected children.

摘要

通过克隆的人苯丙氨酸羟化酶基因探针，对两个高危家庭进行了经典型苯丙酮尿症（PKU）的产前诊断，该探针用于分析从培养的羊水细胞中分离的DNA。一个家庭中PKU胎儿和另一个家庭中杂合子胎儿的诊断在出生后得到证实。通过DNA分析的产前诊断程序可以可靠地应用于90%有过患病儿童的白种人家庭。

相似文献

1
Prenatal diagnosis of classic phenylketonuria by DNA analysis.通过DNA分析对经典型苯丙酮尿症进行产前诊断。
Lancet. 1985 Mar 9;1(8428):549-51. doi: 10.1016/s0140-6736(85)91208-5.
2
Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.苯丙酮尿症产前诊断中苯丙氨酸羟化酶基因座的多态性DNA单倍型
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Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.苯丙氨酸羟化酶基因突变检测与苯丙酮尿症的产前诊断
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[DNA diagnosis of monogene hereditary diseases exemplified by phenylketonuria and mucoviscidosis].[以苯丙酮尿症和囊性纤维化为例的单基因遗传性疾病的DNA诊断]
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Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.克隆的人类苯丙氨酸羟化酶基因可用于经典型苯丙酮尿症的产前诊断和携带者检测。
Nature. 1983;306(5939):151-5. doi: 10.1038/306151a0.
6
Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.人类苯丙氨酸羟化酶基因座限制性片段长度多态性的研究及其在中国苯丙酮尿症产前诊断中的潜在应用评估。
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[Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)].
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Prenatal diagnosis of phenylketonuria by haplotype analysis.通过单倍型分析进行苯丙酮尿症的产前诊断。
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[Genetic diagnosis in classical phenylketonuria].[经典型苯丙酮尿症的基因诊断]
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引用本文的文献

1
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.苯丙酮尿症相关苯丙氨酸羟化酶突变的分子分析：一种快速简便的基因分型检测方法
Methods Protoc. 2018 Aug 16;1(3):30. doi: 10.3390/mps1030030.
2
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.人类苯丙氨酸羟化酶基因座的广泛限制性酶切位点多态性及其在苯丙酮尿症产前诊断中的应用。
Am J Hum Genet. 1985 Jul;37(4):619-34.
3
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.
Proc Natl Acad Sci U S A. 1985 Sep;82(18):6221-5. doi: 10.1073/pnas.82.18.6221.
4
"Inborn errors of metabolism" and "chemical individuality", two ideas of Sir Archibald Garrod briefly revisited 50 years after his death.“先天性代谢缺陷”与“化学个体性”——阿奇博尔德·加罗德爵士的两个观点在其逝世50年后被简要回顾
Eur J Pediatr. 1986 Apr;145(1-2):2-5. doi: 10.1007/BF00441842.
5
Retroviral-mediated gene transfer of human phenylalanine hydroxylase into NIH 3T3 and hepatoma cells.逆转录病毒介导的人苯丙氨酸羟化酶基因向NIH 3T3细胞和肝癌细胞的转移。
Proc Natl Acad Sci U S A. 1986 Jan;83(2):409-13. doi: 10.1073/pnas.83.2.409.
6
Diagnosis of genetic disease using recombinant DNA.使用重组DNA诊断遗传疾病。
Hum Genet. 1986 May;73(1):1-11. doi: 10.1007/BF00292654.
7
Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus.人类苯丙氨酸羟化酶（PAH）基因座的RFLP单倍型核对
Am J Hum Genet. 1988 Nov;43(5):781-3.
8
Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.β珠蛋白基因簇中的减数分裂重组导致β地中海贫血产前诊断出现错误。
J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.
9
Molecular biology of phenylketonuria.苯丙酮尿症的分子生物学
Eur J Pediatr. 1987;146 Suppl 1:A5-11. doi: 10.1007/BF00442048.
10
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.人类苯丙氨酸羟化酶基因座的多态性DNA单倍型及其与苯丙酮尿症的关系。
Hum Genet. 1987 May;76(1):40-6. doi: 10.1007/BF00283048.