中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
4期
449-454
,共6页
吴艳瑞%李茜%杨科%肖春杰
吳豔瑞%李茜%楊科%肖春傑
오염서%리천%양과%초춘걸
CMA1基因%遗传多态性%原发性高血压%彝族
CMA1基因%遺傳多態性%原髮性高血壓%彝族
CMA1기인%유전다태성%원발성고혈압%이족
CMA1 gene%Genetic polymorphism%Essential hypertension%Yi population
目的 探讨糜蛋白酶(chymase,CMA1)基因标签单核苷酸多态(tag single nucleotide polymorphism,tag SNPs)与云南彝族原发性高血压的关系.方法 采用聚合酶链反应-限制性片段长度多态性方法,对303例高血压患者和312名对照个体进行4个tag SNPs(rs1956921、rs1800876、rs5244和rs1885108)位点的多态性检测.结果 (1) CMA1基因4个tag SNPs位点等位基因和基因型在高血压组和对照组间的频率分布差异无统计学意义(P>0.05).(2)高血压组男性rs1956921C等位基因的频率显著高于对照组男性(P=0.009).(3)由rs1956921和rs5244构建的单倍型C-T在高血压组男性中的频率显著高于对照组男性(P=0.009).结论 云南彝族人群中,rs1956921C等位基因以及由rs1956921和rs5244两个位点构建的单倍型C-T可能是男性原发性高血压发生的危险因子.
目的 探討糜蛋白酶(chymase,CMA1)基因標籤單覈苷痠多態(tag single nucleotide polymorphism,tag SNPs)與雲南彝族原髮性高血壓的關繫.方法 採用聚閤酶鏈反應-限製性片段長度多態性方法,對303例高血壓患者和312名對照箇體進行4箇tag SNPs(rs1956921、rs1800876、rs5244和rs1885108)位點的多態性檢測.結果 (1) CMA1基因4箇tag SNPs位點等位基因和基因型在高血壓組和對照組間的頻率分佈差異無統計學意義(P>0.05).(2)高血壓組男性rs1956921C等位基因的頻率顯著高于對照組男性(P=0.009).(3)由rs1956921和rs5244構建的單倍型C-T在高血壓組男性中的頻率顯著高于對照組男性(P=0.009).結論 雲南彝族人群中,rs1956921C等位基因以及由rs1956921和rs5244兩箇位點構建的單倍型C-T可能是男性原髮性高血壓髮生的危險因子.
목적 탐토미단백매(chymase,CMA1)기인표첨단핵감산다태(tag single nucleotide polymorphism,tag SNPs)여운남이족원발성고혈압적관계.방법 채용취합매련반응-한제성편단장도다태성방법,대303례고혈압환자화312명대조개체진행4개tag SNPs(rs1956921、rs1800876、rs5244화rs1885108)위점적다태성검측.결과 (1) CMA1기인4개tag SNPs위점등위기인화기인형재고혈압조화대조조간적빈솔분포차이무통계학의의(P>0.05).(2)고혈압조남성rs1956921C등위기인적빈솔현저고우대조조남성(P=0.009).(3)유rs1956921화rs5244구건적단배형C-T재고혈압조남성중적빈솔현저고우대조조남성(P=0.009).결론 운남이족인군중,rs1956921C등위기인이급유rs1956921화rs5244량개위점구건적단배형C-T가능시남성원발성고혈압발생적위험인자.
Objective To assess the association of tag single nucleotide polymorphisms (tag SNPs) of chymase gene (CMA1) with essential hypertension in Yi population from Yunnan,China.Methods A casecontrol study was carried out.Four tag SNPs (rs1956921,rs1800876,rs5244 and rs1885108) were genotyped in 303 patients with essential hypertension and 312 healthy controls using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.Results No significant difference in genotypic and allelic distributions of the four polymorphisms was detected between the two groups(P> 0.05),and the same results existed in the females.The frequencies of rs1956921 C allele and a C-T haplotype constructed with rs1956921 and rs5244 were greater in male patients compared with male controls (P<0.01).Conclusion The rs1956921 C allele of the CMA1 gene and the C-T haplotype constructed with rs1956921 and rs5244 may be risk factors for essential hypertension in ethnic Yi males from Yunnan.