聚合酶链反应快速分子遗传学诊断囊性纤维化的经验报告。

Czechoslovak medicine Pub Date : 1990-01-01

M Macek, I Boehm, L Arnold, J Smrt, M Macek, R Duspivová, V Vávrová, Z Sedlácek, K Sperling, J Schmidtke

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引用次数: 0

摘要

作者报告了他们用聚合酶链反应(PCR)在产前诊断囊性纤维化中进行大约2000次DNA扩增的经验。该方法通过使用与cf密切相关的诊断多态性(J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI和XV2c/TaqI)在1/ 4疾病风险的家庭中进行诊断信息和产前诊断检查的示例进行了演示，并讨论了PCR方法和安全注意事项。

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The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report.

The authors report their experience with about two thousand DNA amplifications by polymerase chain reaction (PCR) in prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of diagnostic informativity and prenatal diagnosis examination in a family at 1 in 4 risk of the disease using closely CF-linked diagnostic polymorphisms: J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI and XV2c/TaqI, PCR methodology and safety precautions are discussed.

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Czechoslovak medicine

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