分子遗传学技术用于产前诊断*

K. Suzumori, M. Tanemura, R. Adachi
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引用次数: 1

摘要

近年来,分子遗传学技术已迅速纳入常规临床和实验室医学,包括先天性代谢错误在内的遗传性疾病已被诊断为DNA的变化。与传统的生物化学技术在蛋白质水平上的分析相比,分子遗传学技术的优点是可以用少量的样品进行快速和准确的分析。因此,它们在临床上不仅用于诊断各种遗传疾病,而且还用于在门诊检测感染,包括病毒感染。它们也被应用于胎儿诊断,给产前医学带来了重大变化。
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Molecular Genetic Techniques for Prenatal Diagnosis *
Abstract Recently, molecular genetic techniques have been rapidly incorporated into routine clinical as well as laboratory medicine, and genetic diseases including inborn errors of metabolism have come to be diagnostically viewed as changes in DNA. Molecular genetic techniques have the advantage that rapid and accurate analysis can be made with a small amount of samples in comparison with analysis at the protein level by conventional biochemical techniques. They are, therefore, clinically used today not only for the diagnosis of various genetic diseases but also for the detection of infection, including viral infections, in the outpatient clinic. They have also been applied to fetal diagnosis, and are bringing about major changes in prenatal medicine.
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