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目的:通过对长沙汉族人群TGFB1的多态分布规律的研究,从遗传流行病学的角度探讨TGFB1 SNPs(单核甘酸多态性)与长沙汉族人群脑卒中的关系。方法:应用PCR、RFLP及DNA直接测序等方法对研究人群进行-509C>T及+869T>C基因分型。研究对象包括:脑梗死(CI)患者186例,脑出血(CH)患者202例,正常对照人群160例。结果:脑梗死组(CI)和脑出血组(CH)分别与对照组比较,-509C>T和+869T>C基因型及等位基因频率分布无统计学差异(P>0.05),有脑梗死家族史的患者(FCI组)与对照组比较,-509 T等位基因携带者及+869C等位基因携带者频率较高(P<0.05),其中-509 T携带者脑梗死的患病风险为对照组的1.557倍,+869C携带者脑梗死的患病风险为对照组的1.45倍。结论:TGFB1-509C>T及+869T>C与有脑梗死家族史的长沙汉族人群脑梗死发病可能相关,但与有脑出血家族史的长沙汉族人群脑出血发病无关,-509T和+869C等位基因可能是有脑梗死家族史的长沙汉族人群脑梗死发病的危险因子。
OBJECTIVE: To investigate the relationship between TGFB1 SNPs (SNPs) and stroke in Han nationality of Changsha city from the perspective of genetic epidemiology through the study of polymorphism distribution of TGFB1 in Changsha Han population. Methods: The genotypes of -509C> T and + 869T> C were studied in the study population by PCR, RFLP and DNA direct sequencing. The subjects included 186 cerebral infarction (CI) patients, 202 cerebral hemorrhage (CH) patients and 160 healthy controls. Results: There were no significant differences in the frequencies of -509C> T and + 869T> C genotypes and alleles between cerebral infarction group (CI) and cerebral hemorrhage group (CH) and control group (P> 0.05) The frequencies of -509 T allele and + 869 C allele were higher in FCI group than those in control group (P <0.05). The prevalence of cerebral infarction in -509 T carriers The risk was 1.557 times that of the control group, and the prevalence of cerebral infarction in + 869C carriers was 1.45 times of the control group. Conclusion: TGFB1-509C> T and + 869T> C may be associated with the onset of cerebral infarction in Changsha Han population with a family history of cerebral infarction, but not with the onset of cerebral hemorrhage in Changsha Han population with a family history of cerebral hemorrhage, such as -509T and + 869C The bit gene may be a risk factor for cerebral infarction in Changsha Han nationality with a family history of cerebral infarction.