微卫星不稳定检测在新疆地区人群HNPCC家系筛查中的应用

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.%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 Xinjiang 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 .