【摘要】 目的寻找中国人群胆囊结石病的致病基因。方法采用荧光标记微卫星位点,对12个胆囊结石病家系进行全基因组扫描;采用非参数分析软件GENEHUNTER和参数分析软件BATCHLINK进行连锁分析,寻找染色体上与胆囊结石病发病有关的位点。按患者发病年龄、体重指数、胆固醇和甘油三酯水平等指标,对家系进行分组分析。结果染色体上D3S1266、D4S406、D9S1682和D11S902位点,提示与胆囊结石病发病有关。其中D4S406和D9S1682的非参数分析优势对数值(NPL)分别为1.77(P=0.05)和1.92(P=0.04),参数分析优势对数值(LOD)分别为1.84和2.07。D3S1266位点的LOD值为1.35。D11S902位点传递不平衡检验,P值为0.0027。高发病年龄组D3S1266位点的LOD值由1.35上升到2.71,高甘油三酯组D9S1682位点的LOD值由2.07上升到2.40。结论3号、4号、9号和11号染色体上,可能有胆囊结石病致病的基因位点;3号染色体上的致病基因位点可能与发病年龄较大患者发生胆囊结石病有关;9号染色体上致病基因位点可能与伴有高甘油三酯患者发生胆囊结石病有关。更多还原

【Abstract】 Objective To search the susceptibility genes of gallstone disease in Chinese population.Methods A genome wide scan was performed in twelve families with gallstone disease using fluorescence-labeled microsatellite markers.Genehunter and Batchlink of Linkage package were used for non-parameter and parameter linkage analysis to search the linkage loci on chromosomes.Results Four loci of D3S1266,D4S406,D9S1682 and D11S902 showed suggestive evidence for linkage.nonparametric linkage analysis(NPL)-score of D4S406 and D9S1682 was 1.77(P=0.05)and 1.92(P=0.04) respectively.The corresponding logarithm of the odds ratio(LOD)-score of D3S1266,D9S1682 were 1.35 and 2.07,and showed a rise of LOD-score from 1.35 to 2.71,2.07 to 2.40 respectively when families with later-found patients or with higher triglyceride level were analyzed alone.Transmitted disequilibrium test of D11S902 showed a P-value of 0.0027.Conclusions Chromosome 3?4?9 and 11 may contain genes involved in gallstone disease in Chinese population,and chromosome 3,9 may hide genes that are liked to gallstone disease in families with later-found patients or with higher triglyceride concentration.更多还原