中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
3期
316-319
,共4页
曾艺%张乐%胡中扬%杨期东%刘宝琼%马明明%刘运海%许宏伟%夏健%杜小平%胡治平
曾藝%張樂%鬍中颺%楊期東%劉寶瓊%馬明明%劉運海%許宏偉%夏健%杜小平%鬍治平
증예%장악%호중양%양기동%류보경%마명명%류운해%허굉위%하건%두소평%호치평
组织型激肽释放酶基因%单核苷酸多态性%脑出血
組織型激肽釋放酶基因%單覈苷痠多態性%腦齣血
조직형격태석방매기인%단핵감산다태성%뇌출혈
kallikrein 1 gene%single nucleotide polymorphism%cerebral hemorrhage
目的 分析长沙地区汉族人群脑出血与组织型激肽释放酶(kallikrein 1,KLK1)基因多态性的关系.方法 收集273例散发性脑出血患者和140名正常对照者的外周血标本.采用多重单碱基延伸单核苷酸多态分型技术和DNA测序法检测KLK1基因rs5516及rs5517多态性位点在两组人群中的分布.结果 (1)脑出血组及对照组KLK1基因rs5516多态和等位基因频率分布差异无统计学意义(P>0.05);脑出血组组织型KLK1基因rs5517多态A等位基因频率显著高于对照组(P<0.05).(2)对照组rs5517多态AA及GA基因型携带者舒张压水平显著高于GG基因型携带者(P<0.05);而rs5516位点各基因型亚组间血压水平差异无统计学意义(P>0.05).结论 组织型激肽释放酶基因rs5516多态性与脑出血无关,而组织型激肽释放酶基因rs5517多态性与脑出血存在关联,可能通过影响血压水平而参与脑出血的发生发展.
目的 分析長沙地區漢族人群腦齣血與組織型激肽釋放酶(kallikrein 1,KLK1)基因多態性的關繫.方法 收集273例散髮性腦齣血患者和140名正常對照者的外週血標本.採用多重單堿基延伸單覈苷痠多態分型技術和DNA測序法檢測KLK1基因rs5516及rs5517多態性位點在兩組人群中的分佈.結果 (1)腦齣血組及對照組KLK1基因rs5516多態和等位基因頻率分佈差異無統計學意義(P>0.05);腦齣血組組織型KLK1基因rs5517多態A等位基因頻率顯著高于對照組(P<0.05).(2)對照組rs5517多態AA及GA基因型攜帶者舒張壓水平顯著高于GG基因型攜帶者(P<0.05);而rs5516位點各基因型亞組間血壓水平差異無統計學意義(P>0.05).結論 組織型激肽釋放酶基因rs5516多態性與腦齣血無關,而組織型激肽釋放酶基因rs5517多態性與腦齣血存在關聯,可能通過影響血壓水平而參與腦齣血的髮生髮展.
목적 분석장사지구한족인군뇌출혈여조직형격태석방매(kallikrein 1,KLK1)기인다태성적관계.방법 수집273례산발성뇌출혈환자화140명정상대조자적외주혈표본.채용다중단감기연신단핵감산다태분형기술화DNA측서법검측KLK1기인rs5516급rs5517다태성위점재량조인군중적분포.결과 (1)뇌출혈조급대조조KLK1기인rs5516다태화등위기인빈솔분포차이무통계학의의(P>0.05);뇌출혈조조직형KLK1기인rs5517다태A등위기인빈솔현저고우대조조(P<0.05).(2)대조조rs5517다태AA급GA기인형휴대자서장압수평현저고우GG기인형휴대자(P<0.05);이rs5516위점각기인형아조간혈압수평차이무통계학의의(P>0.05).결론 조직형격태석방매기인rs5516다태성여뇌출혈무관,이조직형격태석방매기인rs5517다태성여뇌출혈존재관련,가능통과영향혈압수평이삼여뇌출혈적발생발전.
Objective To explore the association between single nucleotide polymorphisms (SNPs) of KLK1 gene and cerebral hemorrhage in Changsha Han Chinese. Methods Two hundred and seventy three cerebral hemorrhage (CH) patients and 140 healthy controls were collected. The SNPs of rs5516 and rs5517 loci of KLK1 gene were analyzed by SNaPshot methods and direct sequencing. Results (1) Genotype and allele frequencies in rs5516 locus had no difference between the CH patients and controls (P>0. 05). However, the A allele frequency of the rs5517 locus in CH patients was higher than that in the control group (0. 419, 0. 321 respectively, P<0. 05). (2)In the control group,the levels of diastolic blood pressure (DBP) of the GA and AA genotype carriers of the rs5517 locus were significantly higher than those of the GG genotype (P<0. 05), while the levels of blood pressure were not significantly different among different genotypes of the rs5516 polymorphism in both CH patients and the control group(P>0. 05). Conclusion Author's preliminary results suggested that the rs5517 polymorphism was associated with cerebral hemorrhage, while the rs5516 polymorphism was not in Changsha Han Chinese.
