| 微卫星不稳定检测在新疆地区人群HNPCC家系筛查中的应用 |
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| 引用本文： | 齐芸,张剑权,李志刚,黄桂林.微卫星不稳定检测在新疆地区人群HNPCC家系筛查中的应用[J].临床和实验医学杂志,2012,11(22):1763-1765. |
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| 作者姓名： | 齐芸 张剑权 李志刚 黄桂林 |
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| 作者单位： | [1]石河子大学医学院 [2]石河子大学医学院第一附属医院普外二科,新疆石河子832002 |
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| 基金项目： | 新疆哈萨克家族性HNPCC微卫星不稳定和错配修复基因突变规律研究国家自然基金81060035;新疆人群HNPCC家系筛查及微卫星不稳定和错配修复基因突变规律研究博士资金2010JC17; |
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| 摘 要： | 目的通过微卫星不稳定性(MSI)检测在中国新疆地区人群遗传性非息肉病性结直肠癌(HNPCC)家系筛查,为临床筛查提供相关依据。方法通过聚合酶链反应-单链构象多态性(PCR-SSCP)技术对新疆地区的HNPCC家系组(A组12例)、可疑HNPCC家系组(B组10例)及散发型大肠癌(C组20例)进行检测及分析。结果 HNPCC家系、可疑HNPCC家系组及散发型大肠癌高度微卫星不稳定(MSI-H)情况分别为83.3%、50.0%、10.0%,HNPCC家系、可疑HNPCC家系组分别较散发型大肠癌高度微卫星不稳定情况高(P<0.05),差异有统计学意义。结论 MSI与HNPCC情况高度相关,作为HNPCC筛查的重要手段,对指导临床有重要意义。
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| 关 键 词： | 非息肉病性结直肠癌 DNA错配修复 微卫星不稳定 |
Application of microsatellite instability examination for the screening of hereditary nonpolyposis coiorectal cancer pedigree in Xinjiang area. |
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| Institution: | QI Yun, ZHANG jian- quan, LI Zhi- gang, et al. 1. The Medical College of Shihezi University; 2. The Second General Surgery Department, The First Affiliated Hospital of the Medical College, Shihezi University, Shihezi Xinjiang 832002, China. |
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| Abstract: | Objective To use microsatellite instability （MSI） examination to test hereditary nonpolyposis colorectal cancer （HNPCC） pedigree in Xinjiang area in order to provides related basis for clinical screening. Methods PCR - SSCP was conducted in HNPCC pedigree （ group A, 12 cases）, the suspicious HNPCC pedigree （ group B, 10 cases） and the sporadic colorectal cancer cases （ group C, 20 cases） in Xin- jiang area. The results were analyzed. Results The percentages of MSI - H were 83.3 %, 50.0% and 10% in group A, group B and group C respectively. There was significant difference between group A and group C, and between group B and group C （ P 〈 0.05 ）. Conclusion MSI and HNPCC is highly related. MSI identification therefore is of clinical importance for guiding the screening of HNPCC . |
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| Keywords: | Hereditary nonpolyposis colorectal cancer DNA mismatch repair Microsatellite instability |
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