C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is a risk factor for stroke, suggesting that widespread detection could help to prevent stroke. DNA from 70 stroke pa-tients and 70 healthy controls was extracted from saliva using a magnetic nanoparticles-based method and from blood using conventional methods. Real-time PCR results revealed that the C677T polymorphism was genotyped by PCR using DNA extracted from both saliva and blood samples. The genotype results were confirmed by gene sequencing, and results for saliva and blood samples were consistent. The mutation TT genotype frequency was significantly higher in the stroke group than in controls. Homocysteine levels were significantly higher than controls in both TT genotype groups. Therefore, this noninvasive magnetic nanoparticles-based method using saliva samples could be used to screen for the MTHFR C677T polymorphism in target populations.

单纯收缩期高血压患者MTHFR、CBS基因多态性及代谢相关因子研究

Objective:To study the relationship between isolated systolic hypertenson and MTHFR,CBS the keys enzyme of homocysteine metabolism,gene polymorphisms,related variation of homocysteine level,their metabolic factors,so as to screen the predisposing gene and intermediate phenotype of ISH.Methods:From Tianjin hypertension prevention and cure area selected by examinations to get 55 examples,matched control 46 example,apply the molecular biology method to detect MTHFR C677,CBS G919,T833,C341 different site gene polymorphisms,and measurese the concentration of Hcy,folic acid,vitamin B12 and B6 at the same time,then proceed the relativity analysis.Results:The genotype frequency of ISH group is different from that of control group(P＜0.05).The higher frequency of T allele of MTHFR is 69.1%,observed in ISH group(P＜0.01); and the mutation allelt frequency of CBS is 15.2%,different from matched control.The Hcy levels of ISH group(17.7±8.5μmol s/l)are higher than those of matched control(10.65±3.1μmol s/l,P＜0.05).But the concentration of folic acid,vitamin B12 and B6 are lower compared to the controlled(P＜0.05).There are more hyperhomocysteinemia patients in ISH group(P＜0.05). Plasma homocyeteine play apernicious role in ISH pathogeine and folic acid may have negative effect on ISH.Conclusion:Mutation of MTHFR or CBS can both cause the elevation of plasma homocysteine so as to boost the onset of ISH.Then we can draw the conclusion that MTHFR and CBS genes may be the predisposing gene of ISH,Hcy my be the improtant intermiediate phenotype.Reasonable complementation of folic acid,vitamin B6,vitaminB12 can lower the plasma Hcy level,and defer ISH occurrence and progress.

同型半胱氨酸、叶酸及维生素 B12水平与脑梗死发病的危险相关性

Objective To discuss the relationship of cerebral infarction with hyperhomocysteinemia and the relationship between hyperhomocysteinemia and folic acid and Vitamine B12.Method We measured the concentrations of homocysteine with FIPA(fluorescence polarization immunoassay)and Vitamin B12 and folic acid with chemiluminescent competitive immunoassay in 40 cerebral infarction patients and 30 healthy controls.Results The concentration of homocysteine in study group was higher than the controls' (P< 0.01).Serum folic acid level in study group was lower than that in control group (P< 0.05).There is negative correlation between plasma homocysteine and serum folic acid(P< 0.05). Conclusions Hyperhomocysteinemia is an independent risk factor of atherosclerotic cerebral infarction.One reason of increased level of homocysteine in blood is that the deficiency of cofactors of enzymes involved in metabolism process.

Objective:To study the metabolism abnormality of homocysteine(Hcy) in unexplained repeated spontaneous abortion(URSA).Methods:The level of Hcy in sera was measured with hyperpressure liquid chromatography(HPLC);Folic acid and vitamin B12 were detected by radioimmune assay;anticardiolipin antibody (ACA) was detected by ELISA.Results:(1)The level of serum Hcy in URSA group was significantly higher than that in control group,showing a statistical significant difference(P＜0.01).The level of Hcy was correlated with ages,but not correlated with areas,numbers of miscarriage,gestation age,primary or secondary abortions.(2)The levels of folic acid and vitamin B12 in URSA group were significantly lower than those in control group.The levels of serum folic acid and vitamin B12 were not correlated with age,area,numbers of miscarriage and abortion periods.(3)ACA positive rate in URSA was significantly higher than that in control group.The level of Hcy in ACA(+) group was significantly higher than that in ACA(-) group among URSA patients.Conclusions:Hyperhomocysteinemia,low folic acid state,and ACA were all the independent risk factors for URSA.Lacking of folic acid and vitamin B12 is one of the important causes of hyperhomocysteinemia.ACA and hyperhomocysteinemia may have synergistic action in the occurrence of URSA.

Homocysteine (Hcy) was first linked with atherosclerosis over more than 30 years ago. McCully reported autopsy evidence of extensive arterial thrombosis and atherosclerosis in two children with elevated plasma Hcy concentrations and homocystinuria in 1969. On the basis of this clinical observation, he put forward the Hcy theory of arteriosclerosis. Subsequent investigations HHcy have confirmed the association between and premature atherosclerosis of the coronary, cerebrovascular, and peripheral vascular beds.

Objective:To analyze the influence of hemoperfusion combined with hemodialysis on serum inflammatory factors, homocysteine (Hcy), parathyroid hormone (PTH) andβ2microglobulin (β2-MG) and other indexes in patients with chronic renal failure.Methods:94 cases with chronic renal failure from December 2013 to January 2015 in our hospital were randomly divided into two groups, according to the order of treatment. The control group of 47 patients with regular hemodialysis treatment, the observation group of 47 cases with blood perfusion combined with hemodialysis treatment. The serum interleukin-1 (IL-1), interleukin-6 (IL-6), tumor necrosis factorβ (TNF-β), high sensitive C reactive protein (hs-CRP), phosphorus (P), Hcy, PTH, BUN,β2-MG and Scr indexes of two groups of patients before and after treatment were detected.Results:After treatment, serum IL-1, IL-6, TNF-β and hs-CRP levels of observation group were (1.72±0.16) ng/L, (12.38±1.67) ng/L, (1.26±0.31) mg/L, (6.78±1.42) ng/mL, were significantly decreased compared with the group before treatmentand control group after treatment (P<0.05). After treatment, serum PTH, Hcy and P levels of observation group were (24.53±4.82) μmol/L, (21.65±2.38) pmol/L, (1.50±0.29) mmol/L, were significantly decreased compared with the group before treatment and control group after treatment (P<0.05). After treatment,β2-MG, BUN, Scr levels of observation group were (1.92±0.26) mg/L,(6.76±1.23) mmol/L, (410.62±13.20) μmol/L, were significantly decreased compared with the group before treatment and control group after treatment. The skin itching relieving rate of observation group was 91.49% (43/47) was significantly higher than the control groups’ 59.57% (19/47), the differences were statistically significant.Conclusion:The curative effect of blood perfusion combined with hemodialysis in the treatment of chronic renal failure is significant, can effectively reduce the serum level of inflammatory factors, can clean out Hcy, PTH,β2-MG significantly, and can effectively improve renal function and skin itching symptoms, is worthy of clinical popularization and application.