高分辨率熔解分析的技术特点及临床应用  

Technical characteristics and clinical application of high resolution melting analysis

作　　者：杨志刚[1] 宋元宗[1] 

机构地区：[1]暨南大学附属第一医院儿科,广州510630

出　　处：《国际遗传学杂志》2011年第5期261-265,共5页International Journal of Genetics

基　　金：中国广东省医学科研基金（A2009366）;国家自然科学基金（81070279）

摘　　要：高分辨率熔解分析（high resolution melting analysis, HRMA）是一种研究单核苷酸多态性及DNA突变的新技术。HRMA作为一种简便、准确、快速、低成本的闭管操作模式，已在DNA突变扫描、基因分型、甲基化检测与序列匹配等临床研究中得到应用。该文就HRMA的技术特点及其临床应用作一综述。High resolution melting analysis （HRMA） is a novel technique developed in recent years for detection of single nucleotide polymorphisms （ SNPs ） and DNA mutations. Nowadays HRMA has been applied into clinical research such as DNA variant scanning, genotyping, methylation analysis and sequence matching, as an inexpensive closed tube format that is convenient, accurate and rapid. The technical features of HRMA and its clinical application were reviewed in this paper.

关 键 词：高分辨熔解分析 突变 临床应用 CITRIN缺陷病 

分 类 号：R4[医药卫生—临床医学]