Tsongalis Gregory J, Coleman William B
Department of Pathology, Dartmouth Medical School and Dartmouth Hitchcock Medical Center Lebanon, NH 03756, USA.
Clin Chim Acta. 2006 Jan;363(1-2):127-37. doi: 10.1016/j.cccn.2005.05.043. Epub 2005 Aug 15.
Detection of single nucleotide polymorphisms (SNPs) and gene mutations is becoming more routine to the clinical laboratory.
Completion of the Human Genome Project has led to new scientific knowledge of human disease processes that has revealed the most fundamental of abnormalities in nucleic acids while at the same time bringing some of the most sophisticated diagnostic tools to the clinical laboratory. In addition, public awareness (both lay persons and healthcare providers) and sensitivity to human genetics has increased tremendously. Together, this rapidly evolving science and increased public education has led to an increasing demand for genotypic testing.
There are several clinical applications of human genotyping that are available using these newer technologies.
单核苷酸多态性（SNP）和基因突变的检测在临床实验室正变得越来越常规。
人类基因组计划的完成带来了关于人类疾病过程的新科学知识，揭示了核酸中最基本的异常情况，同时也为临床实验室带来了一些最先进的诊断工具。此外，公众（包括普通人和医疗服务提供者）对人类遗传学的认识和敏感度大幅提高。总之，这一迅速发展的科学以及公众教育的增加导致对基因分型检测的需求不断上升。
使用这些更新的技术可进行几种人类基因分型的临床应用。
