Liang Qi, Lichy Jack H
Department of Cellular Pathology and Genetics, 1413 Rsearch Blvd, Bldg. 101, Rockville, MD 20850, USA.
Expert Rev Mol Diagn. 2002 Jan;2(1):49-59. doi: 10.1586/14737159.2.1.49.
Recent molecular genetic testing methods for hereditary hemochromatosis (HH) and single nucleotide polymorphisms are summarized. Comparisons of various sample preparation and detection instrumentation are made in terms of automation, cost, high-throughput and feasibility of implementation in a clinical laboratory. Examples are given for the analysis of the two mutations associated with hereditary hemochromatosis (HH) by high-performance liquid chromatography, capillary electrophoresis and mass spectrometry based on single nucleotide extension. The trends for developing better genetic testing are discussed.
总结了近期用于遗传性血色素沉着症（HH）的分子基因检测方法及单核苷酸多态性。从自动化、成本、高通量以及在临床实验室实施的可行性等方面，对各种样本制备和检测仪器进行了比较。给出了基于单核苷酸延伸，采用高效液相色谱法、毛细管电泳法和质谱法分析与遗传性血色素沉着症（HH）相关的两种突变的示例。讨论了开发更好的基因检测方法的趋势。
