单链构象多态性与变性高效液相色谱法在遗传性非息肉病性结直肠癌hMSH2和hMLH1基因突变筛查中的敏感性与特异性比较
[Comparison of the sensibility and specificity between single-stranded conformation polymorphism and denaturing high-performance liquid chromatography in screening hMSH2 and hMLH1 gene mutations in hereditary non-polyposis colorectal cancer].
作者信息
Wei Guang-hui, Zhao Bo, Wang Zhen-jun
机构信息
Department of Surgery, Beijing Caoyang Hospital, Capital Medical University, Beijing, China.
出版信息
Zhonghua Wei Chang Wai Ke Za Zhi. 2008 Sep;11(5):462-4.
OBJECTIVE
To compare the sensibility and specificity between single-stranded conformation polymorphism (SSCP) and denaturing high-performance liquid chromatography (DHPLC) in screening hMSH2 and hMLH1 gene mutations for the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC).
METHODS
Seven Chinese HNPCC kindreds were collected. PCR-SSCP and DHPLC were used to screen the coding regions of hMSH2 and hMLH1 genes and the abnormal profiles were sequenced by a 377 DNA sequencer.
RESULTS
Seven gene sequence variations of hMSH2 or hMLH1 were found. Among them, 4 variations were not found by SSCP, but by DHPLC. The sensibility of SSCP and DHPLC were 51.6% and 100% respectively, and the specificity were 66.6% and 93.3% respectively.
CONCLUSION
DHPLC has better sensibility and specificity in screening hMSH2 and hMLH1 gene mutation as compared to SSCP. DHPLC is an ideal method in the diagnosis of HNPCC.
目的
比较单链构象多态性（SSCP）和变性高效液相色谱法（DHPLC）在筛查hMSH2和hMLH1基因突变以诊断遗传性非息肉病性结直肠癌（HNPCC）中的敏感性和特异性。
方法
收集7个中国HNPCC家系。采用聚合酶链反应-SSCP（PCR-SSCP）和DHPLC对hMSH2和hMLH1基因的编码区进行筛查，对异常图谱用377型DNA测序仪进行测序。
结果
发现hMSH2或hMLH1的7个基因序列变异。其中，4个变异未被SSCP发现，但被DHPLC发现。SSCP和DHPLC的敏感性分别为51.6%和100%，特异性分别为66.6%和93.3%。
结论
与SSCP相比，DHPLC在筛查hMSH2和hMLH1基因突变方面具有更好的敏感性和特异性。DHPLC是诊断HNPCC的理想方法。
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