深圳青年高同型半胱氨酸血症MTHFR C677T基因无创纳米筛查及基因多态性研究

Non-invasive nano screening of the MTHFR C677T gene and genetic polymorphisms in Youth with high homocysteine in Shenzhen

目的为深圳青年高同型半胱氨酸血症防治提供准确快速的转化医学药物服用方案指导,实现基因层面预防。方法选取深圳青年中进行MTHFR C677T基因无创纳米筛查的受检者,从中随机抽取100例基因检测结果为正常的受检者作为对照组,100例患有高同型半胱氨酸血症的患者设为病例组,对两组对象患者不同高同型半胱氨酸水平和MTHFRC6677T基因型的相关性进行对比。并将深圳地区青年高同型半胱氨酸血症MTHFR C677T基因型与其他地区患者比较。结果两组对象MTHFR基因频率(TT、CT、CC)和等位基因频率(T、C)的差异均有显著性(P<0.05),病例组患者MTHFR基因频率中TT、等位基因频率中T高于对照组,而MTHFR基因频率中CT和CC、等位基因频率中C低于对照组;两组对象不同基因型(TT、CT、CC)的血浆Hcy水平具有显著差异(P<0.05),且均有病例组患者血浆Hcy水平明显高于对照组;不同地区高同型半胱氨酸血症患者MTHFR C677T基因型进行比较,差异具有统计学意义(P<0.05),基因型中CC最高为湖南地区(53.33%)、最低为美国(17.85%);CT最高为美国(48.07%)、最低为湖南地区(34.16%);TT最高为深圳地区(35.00%)、最低为美国(3.57%)。结论通过深圳青年高同型半胱氨酸血症MTHFR C677T基因多态性表现的研究,能够达到对高同型半胱氨酸血症高危人群早期基因预警筛查目的。

Objective To provide accurate and fast conversion of medical drug use program guidance for young people in Shenzhen with high homocysteine,and to achieve genetic level to prevent. Methods Patients were selected from MTHFR C677 T gene Nano noninvasive screening subjects. 100 cases of patients with normal genetic test results were randomly selected as control group,and 100 patients with high homocysteine as case group. The correlation comparison and discussion of high homocysteine levels and MTHFRC6677 T genotypes in the different groups were performed. Results MTHFR gene frequency（ TT,CT,CC） and allele frequency（ T,C） were significantly difference between the two groups（ P〈0. 05）,MTHFR gene frequency TT and allele frequency of T in case group were higher than those of the control group,while the MTHFR gene frequency CT and CC,C was lower than that of the control group in the allele frequency. The plasma Hcy levels of different genotypes（ TT,CT,CC） in the two groups were significantly different（ P〈0. 05）,and the plasma Hcy levels in the patients were significantly higher than those in the control group. Patients with high homocysteine levels,different regions MTHFRC677 T genotype,differences were statistically significant（ P〈0. 05）,genotype CC in hunan region was the highest（ 53. 33%）,the lowest was in the United States（ 17. 85%）. CT was the highest in the United States（ 48. 07%） and the lowest in hunan（ 34. 16%）. TT was the highest in shenzhen（ 35. 00%） and lowest in the us（ 3. 57%）. Conclusion Research on the Shenzhen Youth high homocysteine MTHFR C677 T polymorphism performance can help to reach an early screening purpose.