Lazarou L P, Meredith A L, Myring J M, Tyler A, Morris M, Ball D M, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
Clin Genet. 1993 Mar;43(3):150-6. doi: 10.1111/j.1399-0004.1993.tb04441.x.
We describe the laboratory-related aspects of a series of 40 completed presymptomatic tests for Huntington's disease, using linked DNA markers. Pedigree structure and marker heterozygosity are shown to be important factors, both in the number of laboratory analyses required to give an informative situation and the residual uncertainty of the final estimate. Specific problems encountered by the testing laboratory are described, with possible ways of avoiding them, and the close links required between laboratory and clinical staff are emphasised.
我们描述了一系列40例使用连锁DNA标记完成的亨廷顿病症状前检测的实验室相关情况。系谱结构和标记杂合性被证明是重要因素，这在为获得有用信息所需的实验室分析数量以及最终估计的残余不确定性方面均是如此。描述了检测实验室遇到的具体问题以及避免这些问题的可能方法，并强调了实验室与临床工作人员之间所需的紧密联系。
