CAJ | 학술논문

目的观察糖、脂代谢调节基因的微卫星位点与高血压病间是否连锁，以识别高血压易感基因位点。方法以18个糖、脂代谢调节基因附近的微卫星为标记，采用微卫星荧光标记-基因扫描及分型技术，对95个EH家系477名成员进行标记位点与EH表型连锁分析。统计采用GENEHUNTER软件包两点非参数连锁（NPL）分析、计算优势对数记分(Lod)值及传递不平衡检验（TDT）。结果 NPL分析及Lod值均不支持所测微卫星位点与高血压病连锁，但TDT则提示D8S261、D11S1347位点与高血压病间存在连锁不平衡（P<0.01）。两位点附近分别有脂蛋白脂酶（LPL）基因和(apoA1-C3-A4)基因簇。结论 TDT提示D8S261、D11S1347两位点与高血压病间存在连锁，其位点附近基因（LPL基因及载脂蛋白基因簇）是否为高血压病相关基因值得进一步研究。
목적 관찰당、지대사조절기인적미위성위점여고혈압병간시부련쇄，이식별고혈압역감기인위점。방법 이18개당、지대사조절기인부근적미위성위표기，채용미위성형광표기-기인소묘급분형기술，대95개EH가계477명성원진행표기위점여EH표형련쇄분석。통계채용GENEHUNTER연건포량점비삼수련쇄（NPL）분석、계산우세대수기분(Lod)치급전체불평형검험（TDT）。결과 NPL분석급Lod치균불지지소측미위성위점여고혈압병련쇄，단TDT칙제시D8S261、D11S1347위점여고혈압병간존재련쇄불평형（P<0.01）。량위점부근분별유지단백지매（LPL）기인화(apoA1-C3-A4)기인족。결론 TDT제시D8S261、D11S1347량위점여고혈압병간존재련쇄，기위점부근기인（LPL기인급재지단백기인족）시부위고혈압병상관기인치득진일보연구。
Objective To identify the genetic loci responsible forsusceptibility to essential hypertension (EH) in chromosomal regions containing candidate genes involved in the regulation of glucose and lipid metabolism. Methods Linkage analysis of EH were performed in 95 Chinese nuclear families with 477 subjects using the technique of fluorescence-based gene scan with microsatellite markers. Markers were selected in 11 chromosomal regions containing 18 candidate genes regulating blood glucose and lipid metabolism. The two-locus, non-parametric linkage analysis (NPL), maximum LOD score and transmission/disequilibrium test (TDT) with GENEHUNTER program were used in this study. Results No significant linkages were found by NPL and LOD score analysis (P>0.05 or LOD score <1) at all loci. The results of TDT showed significant linkage with EH at D8S261 and D11S1347 (χ2 =11.92, P<0.001 and χ2 =7.37, P<0.01, respectively). Near these loci, there were a few candidate genes including lipoprotein lipase (LPL) and a cluster of apolipoprotein (apoA1-C3-A4). Conclusion TDT suggests significant linkage with EH at D8S261 and D11S1347. Whether the genes located at or near the two loci, such as LPL and apoA1-C3-A4, are susceptibility genes of EH need to be verified.