CAJ | 학술논문

目的研究12个水盐代谢、离子转运调节基因与高血压病（EH）的关系，以筛选EH易感基因。方法在每一候选基因的染色体区域附近，选择微卫星DNA多态性位点作为遗传标记，采用微卫星引物荧光标记-基因扫描及分型技术，对95个EH核心家系的477个成员进行微卫星位点与EH连锁分析。遗传统计采用Genehunter软件包中两点非参数连锁（NPL）分析、最大LOD 值及传递不平衡检验（TDT）。结果 NPL检验显示，D12S398的 Z=2.08, P＜0.05；LOD 值=1.26, P＜0.01；TDT分析χ2=9.00, P＜0.005。其余位点NPL分析及TDT的P值均>0.05, LOD 值<1。结论采用三种不同的遗传统计方法提示D12S398位点与EH存在连锁，并且在D12S398附近有血管加压素1A受体基因,该区域值得进一步研究。
목적연구12개수염대사、리자전운조절기인여고혈압병（EH）적관계，이사선EH역감기인。방법재매일후선기인적염색체구역부근，선택미위성DNA다태성위점작위유전표기，채용미위성인물형광표기-기인소묘급분형기술，대95개EH핵심가계적477개성원진행미위성위점여EH련쇄분석。유전통계채용Genehunter연건포중량점비삼수련쇄（NPL）분석、최대LOD 치급전체불평형검험（TDT）。결과 NPL검험현시，D12S398적 Z=2.08, P＜0.05；LOD 치=1.26, P＜0.01；TDT분석χ2=9.00, P＜0.005。기여위점NPL분석급TDT적P치균>0.05, LOD 치<1。결론채용삼충불동적유전통계방법제시D12S398위점여EH존재련쇄，병차재D12S398부근유혈관가압소1A수체기인,해구역치득진일보연구。
Objective　To investigate the relationship between 12 candidate genes responsible for regulating water, sodium metabolism and membrane ion transport and essential hypertension (EH) in Chinese. Methods　Linkage analysis was performed in 95 Chinese nuclear families including 477 subjects using a technique of fluorescence-based gene scan with microsatellite markers. Markers were selected on the chromosomal regions containing candidate genes responsible for regulation of water, sodium metabolism and ion transport. The two-point, non-parametric linkage analysis (NPL), maximum LOD score analysis and transmission /disequilibrium test(TDT)were used by Genehunter software package in this study. Results　The NPL analysis and TDT indicated a positive linkage at D12S398 (z=2.08,P<0.05 and χ2=9.00, P<0.005,respectively). LOD score analysis supported significant linkage at D12S398 with a small P value (LOD score=1.26, P<0.01). No significant linkages were found at other loci(P>0.05). Conclusion　D12S398, a marker near vasopress in receptor 1A gene (V1AR), shows positive linkage with EH by using three statistical methods (NPL, LOD Score, and TDT). This region deserves to be further explored.