中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2014年
12期
958-963
,共6页
DNA突变分析%聚合酶链反应%等位基因
DNA突變分析%聚閤酶鏈反應%等位基因
DNA돌변분석%취합매련반응%등위기인
DNA mutational analysis%Polymerase chain reaction%Alleles
检测生物样本中低丰度的DNA突变或微量等位基因,在癌症、产前诊断及传染病等领域都有很重要的应用价值.近年来发展起来的基于PCR原理富集低丰度DNA突变的常用实验技术,包括低变性温度下的复合PCR (COLD-PCR)、改良型完全富集COLD-PCR (ice-COLD-PCR)、温度耐受性PCR (TT-PCR)、肽核酸钳PCR (PNA-mediated PCR)、野生型阻滞扩增PCR (WTB-PCR)以及数字PCR(digital PCR)等,其基本原理、发展进程以及各自的优缺点各有不同.富集低丰度DNA突变的PCR技术在疾病检测中有一定应用价值.
檢測生物樣本中低豐度的DNA突變或微量等位基因,在癌癥、產前診斷及傳染病等領域都有很重要的應用價值.近年來髮展起來的基于PCR原理富集低豐度DNA突變的常用實驗技術,包括低變性溫度下的複閤PCR (COLD-PCR)、改良型完全富集COLD-PCR (ice-COLD-PCR)、溫度耐受性PCR (TT-PCR)、肽覈痠鉗PCR (PNA-mediated PCR)、野生型阻滯擴增PCR (WTB-PCR)以及數字PCR(digital PCR)等,其基本原理、髮展進程以及各自的優缺點各有不同.富集低豐度DNA突變的PCR技術在疾病檢測中有一定應用價值.
검측생물양본중저봉도적DNA돌변혹미량등위기인,재암증、산전진단급전염병등영역도유흔중요적응용개치.근년래발전기래적기우PCR원리부집저봉도DNA돌변적상용실험기술,포괄저변성온도하적복합PCR (COLD-PCR)、개량형완전부집COLD-PCR (ice-COLD-PCR)、온도내수성PCR (TT-PCR)、태핵산겸PCR (PNA-mediated PCR)、야생형조체확증PCR (WTB-PCR)이급수자PCR(digital PCR)등,기기본원리、발전진정이급각자적우결점각유불동.부집저봉도DNA돌변적PCR기술재질병검측중유일정응용개치.
Detection of low-level somatic DNA mutations and minority alleles within a wild-type sample is crucial in fields of medicine,such as cancer,prenatal diagnosis and infectious diseases.Increasing enrichment methods have been developed to study this challenging area.They are typically segregate by their ability to enrich for,and detect,either known or unknown mutations,including COLD-PCR,ice-COLD-PCR,TT-PCR,PNA-mediated PCR,WTB-PCR and digital PCR.In this review,we discuss theoretical principles and relative advantages and disadvantages of these techniques,and put an emphasis on their applications in fields of diseases.