异常黑胆质型疾病患者5-羟色胺转运体基因多态性研究

目的探讨维吾尔医学中异常黑胆质型疾病患者与5-羟色胺转运体基因启动子区(5-HTTLPR)和内含子2区(5-HTTVNTR)多态性的相关性。方法按维吾尔医将患者分为4种体液,利用PCR反应技术检测66例异常黑胆质型患者(其中高血压35例、糖尿病19例、恶性肿瘤12例)和45例对照组的两种基因多态性的分布频率。结果异常黑胆质型患者组5-HTTLPR和5-HTTVNTR基因型频率和等位基因频率与对照组间的差异均无显著性(P>0.05)。但是对照组的L/L纯合子基因型频率(15.56%)高于异常黑胆质型高血压组(5.72%),与之相反的是异常黑胆质型恶性肿瘤组的L/L纯合子基因型频率(25.00%)和L等位基因频率(54.17%)却分别高于对照组的L/L纯合子基因型频率(15.56%)和L等位基因频率(37.78%)。另外对照组的10/10纯合子基因型的频率(4.45%)低于异常黑胆质型糖尿病组的10/10纯合子基因型频率(10.53%)和异常黑胆质型恶性肿瘤组的10/10纯合子基因型频率(8.34%)。结论5-HTTLPRL/L纯合子基因型可能是异常黑胆质型高血压疾病发病的保护因子,5-HTTLPRL等位基因及其纯合子可能是异常黑胆质型恶性肿瘤疾病发病的危险因子,5-HTTVNTR10/10纯合子可能是异常黑胆质型糖尿病和异常黑胆质型恶性肿瘤疾病发病的危险因子。

Study of serotonin transporter gene polymorporphisms in disease of patients with abnormal black Savda

Objective To explore the association between patients with abnormal black Savda according to Uighur medicine theory and the serotonin transporter(5-HTT) gene polymorphisms in the promoter (5-HTTLPR) and the variable number tandem repeats(VNTRs) in intron 2(5-HTTVNTR).Methods Divided the patients into four body fluids according to Uighur medicine theory, PCR was used to detect genotype and allele frequencies of 5-HTILPR and 5-HTTVNTR polymorphisms in 66 patients with abnormal black Savda (including 35 cases of hypertension, 19 cases of diabetes, 12 cases of cancer diagnosis) and 45 control subjects.Results No significant differences for the genotype frequency or the allele frequency of 5-HTTLPR and 5-HTTVNTR were revealed between patients with abnormal black Savda and control subjects. More control subjects tended to be of L/L genotype(15.56%)than hypertension with abnormal black Savda(5.72%). On the contrary, more cancer diagnosis with abnormal black Savda tended to be of L/L genotype(25.00%)and L(54.17%)allele than control subjects L/L genotype(15.56%)and L allele(37.78%).On the other hand, fewer control subjects tended to be of 10/10 genotype(4.45%)than diabetes with abnormal black Savda(10.53%)and cancer diagnosis with abnormal black Savda(8.34%).Conclusion 5-HTTLPR L/L genotype may be a protective factor for hypertension with abnormal black Savda, 5-HTTLPR L/L genotype and L allele may be risk factors for cancer diagnosis with abnormal black Savda, 5-HTTVNTR 10/10 genotype may be risk factors for cancer diagnosis with abnormal black Savda and diabetes with abnormal black Savda.