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DNA探针在遗传疾病诊断中的临床应用。

Clinical applications of DNA probes in the diagnosis of genetic diseases.

作者信息

LeGrys V A, Leinbach S S, Silverman L M

机构信息

Hospital Laboratories, North Carolina Memorial Hospital, Chapel Hill.

出版信息

Crit Rev Clin Lab Sci. 1987;25(4):255-74. doi: 10.3109/10408368709105885.

Abstract

Currently, advances in molecular technology involving recombinant DNA have led to dramatic breakthroughs in genetic diseases, cancer research, and identification of foreign DNA. Of particular interest is the impact these tools have made and will make on the clinical laboratory. We describe the techniques and their effects on clinical testing in the chemistry laboratory by using selected examples of available applications. Specific examples include carrier detections and prenatal diagnosis in cystic fibrosis and hemophilia, and sickle cell anemia.

摘要

目前,涉及重组DNA的分子技术进展已在遗传疾病、癌症研究以及外源DNA鉴定方面取得了重大突破。这些工具对临床实验室产生的影响以及将要产生的影响尤其令人关注。我们通过使用现有应用的选定示例来描述这些技术及其对化学实验室临床检测的影响。具体示例包括囊性纤维化、血友病和镰状细胞贫血的携带者检测和产前诊断。

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