胆囊结石病家系9号染色体基因定位研究

Position of cholelithiasis-associated genes on chromosome 9 in Chinese families

目的研究胆囊结石病基因在9号染色体的位置。方法用微卫星位点为遗传标记对12个胆囊结石病家系进行基因组扫描,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9号染色体上与胆囊结石病连锁的位点及区域。结果D9S1682的LOD值207,NPL值192,P=004。进行分层分析发现,血液甘油三酯升高组D9S1682的LOD值由207上升到240。结论9号染色体上存在胆囊结石病基因位点,该位点可能和伴高甘油三酯血症胆囊结石病有关。

Objective To study the cholelithiasis-associated genes on chromosome 9 in Chinese population. Methods The microsatellite markers were used for wide genome scanning in 12 families with cholelithiasis. Genehunter and Batchlink of the Linkage Package were used for parameter and non-parameter linkage analysis to search the linkage position and are on chromosome 9. Results D9S1682 on chromosome 9 showed suggestive evidence for linkage with NPL score 1.92, P value 0.04 and LOD score 2.07. A rise of LOD score of D9S1682 from 2.07 to 2.40 was found when further analysis was performed. Conclusions Some genes on chromosome 9 might be associated with cholelithiasis in Chinese population. They may also attribute to cholelithiasis accompanied by higher triglyceride concentration in serum in Chinese families.