Vormittag W
II. Medizinische Universitätsklinik, Wien.
Acta Med Austriaca. 1988;15(3):69-77.
Gentechnology detects genetic defects at the DNA level. Direct analysis, which may be performed without family investigations, is the most reliable and therefore the most desirable means of detection. Indirect analysis on the other hand-using restriction fragment length polymorphisms (RFLP) - requires family investigations and the pedigrees are not always informative; furthermore, meiotic recombination may occur leading to erroneous conclusions. Pre-symptomatic diagnosis of a severe disease may cause serious psychical and ethical problems. Prenatal diagnosis by gentechnology may be made after amniocentesis or chorionic villi sampling.
基因技术在DNA水平上检测基因缺陷。直接分析可在不进行家族调查的情况下进行，是最可靠且因此是最理想的检测手段。另一方面，间接分析——使用限制性片段长度多态性（RFLP）——需要家族调查，而且系谱并不总是提供有用信息；此外，减数分裂重组可能发生，导致错误结论。严重疾病的症状前诊断可能会引起严重的心理和伦理问题。通过基因技术进行的产前诊断可在羊膜穿刺术或绒毛取样后进行。
