分子诊断。
Molecular diagnosis.
出版信息
Can Fam Physician. 1987 Feb;33:401-4.
Abstract
Recombinant DNA technology, one of the major controversial areas of biological research in the late 1970s, is now rapidly providing new avenues for diagnosis and treatment. With the early recognition that extensive DNA variation exists in human populations, molecular genetic diagnosis of a variety of common hereditary diseases has become a reality. Recent identification of the location of the gene (or genes) for cystic fibrosis and adult polycystic kidney disease, and characterization of the region of the Duchenne muscular dystrophy gene will lead us towards a better understanding of the basic defects in these diseases. The identification of large multi-generation families with genetic diseases that are useful for identifying gene locations will require the co-operative participation of clinicians, medical geneticists and molecular biologists.
摘要
重组 DNA 技术是 20 世纪 70 年代后期生物学研究中最具争议的领域之一，如今它正在迅速为诊断和治疗开辟新途径。由于人们很早就认识到人类群体中存在广泛的 DNA 变异，因此对各种常见遗传性疾病的分子遗传诊断已成为现实。最近确定了囊性纤维化和成人多囊肾病的基因（或基因）位置，并对杜兴氏肌肉营养不良症基因区域进行了描述，这将使我们更好地了解这些疾病的基本缺陷。鉴定具有遗传疾病的大型多代家族对于鉴定基因位置非常有用，这需要临床医生、医学遗传学家和分子生物学家的共同合作。
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本文引用的文献
1
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J Infect Dis. 1980 Dec;142(6):892-8. doi: 10.1093/infdis/142.6.892.
2
Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.使用克隆的补体3基因探针进行强直性肌营养不良与19号染色体序列的连锁分析。
J Med Genet. 1983 Aug;20(4):259-63. doi: 10.1136/jmg.20.4.259.
3
Impact of genetic manipulation on society and medicine.
Science. 1983 Jan 14;219(4581):135-40. doi: 10.1126/science.6336852.
4
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
5
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
Simplified method for typing herpes simplex virus by restriction endonuclease analysis.通过限制性内切酶分析对单纯疱疹病毒进行分型的简化方法。
J Clin Microbiol. 1983 Mar;17(3):548-51. doi: 10.1128/jcm.17.3.548-551.1983.
7
Molecular cloning of the gene for human anti-haemophilic factor IX.人抗血友病因子IX基因的分子克隆
Nature. 1982 Sep 9;299(5879):178-80. doi: 10.1038/299178a0.
8
A new approach to the classification of human leukaemias: measurement of the relative abundance of a specific RNA sequence by means of molecular hybridisation.
Lancet. 1983 Jan 29;1(8318):197-200. doi: 10.1016/s0140-6736(83)92584-9.
9
The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.人类β-珠蛋白基因及其周围DNA的突变和多态性。
Annu Rev Genet. 1984;18:131-71. doi: 10.1146/annurev.ge.18.120184.001023.
10
Host specificity of DNA produced by Escherichia coli, X. In vitro restriction of phage fd replicative form.大肠杆菌产生的DNA的宿主特异性，X. 噬菌体fd复制型的体外限制
Proc Natl Acad Sci U S A. 1968 Apr;59(4):1300-6. doi: 10.1073/pnas.59.4.1300.
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