ObjectiveTo explore the relationship between plasma homocysteine (Hcy), polymorphism in 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine-β-synthase (CBS), and cerebral thrombosis.Methods87 subjects with first-ever acute cerebral thrombosis and 80 controls were studied. The plasma Hcy levels were measured using high-performance liquid chromatography-fluorescence detection (HPLC-FD). The polymorphism in MTHFR was determined by a polymerase chain reaction (PCR) assay and subsequent restriction enzyme digestion and that in CBS was determined by amplification refractory mutation system (ARMS).ResultsThe fast plasma Hcy level in the patient group was (15.28±4.33)μmol/L significantly higher than that ( 11.32 ±3.86)μmol/L in the control group (P<0.001). Different genotype had different influence on the plasma Hcy levels. There were no differences in genotype frequencies or allele frequencies between the patient group and control group (P>0.05).ConclusionCommon mutations in MTHFR, CBS G919A and CBS T833C lead to hyperhomocysteinemia. Hyperhomocysteinemia, but not common mutations in MTHFR and CBS is associated with the increased incidence of cerebral thrombosis.

Objective To investigate the influences of the genetic factors on the plasma homocysteine (Hcy) level, and the relationships between the plasma homocysteine levels and the polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine ?-synthase (CBS) and the cerebral infarction. Methods All 87 patients with acute cerebral thrombosis and 80 controls were studied. Plasma Hcy levels were measured by high-performance liquid chromatography-fluorescence detection(HPLC-FD)from using baseline 810 high-performance liquid chromatograph. The presence of the MTHFR C677T mutation was determined by polymerase chain reaction (PCR) assay and subsequent restriction enzyme digestion, and the presence of the CBS G919A or CBS T833C was determined by amplification refractory mutation system. Results Fast plasma Hcy levels were shown higher in the patient group (15.3?4.3) ?mol/L as compared with those in the control group (11.3?3.9) ?mol/L (P

Objective To investigate the type of gene mutation and its distribution in patients with thalassemia in Dongguan . Methods 7 845 specimens collected from the patients and individuals with physical examination in our hospital from June 2014 to May 2015 were performed according to the results of routine blood and electrophoresis screening with suspected cases .The speci‐mens with phenotype positive were definitely verified the thalassemia type by using Gap‐PCR and reverse dotblot(RDB) .Results Among 7 845 specimens ,suspected cases of 1 132 cases ,662 specimens were finally diagnosed as α‐thalassemia andβ‐thalassemia , with the thalassemia carrying rate of 8 .44% (662/7 845) ,including 412 cases(5 .25% ) of a‐thalassemia .The most common type ofαα/‐‐SEA ,‐α3 .7/ααaccounted for 61 .17% and 17 .48% inα‐thalassemia ,also detected HKαα/‐‐SEA mixed type in 1 case and 250 cases(3 .19% ) ofβ‐thalassemia cases .The most common type ofβCD41‐42/βN ,βIVS‐Ⅱ‐654/βN ,βCD17/βN accounted for 37 .6% , 23 .2% ,16 .0% inβ‐thalassemia .The α‐thalassemia composite β‐thalassemia for 12 cases(0 .18% ) .Conclusion Dongguan city of Guangdong province is a high incidence area of thalassemia .Premarital examination ,genetic counseling should be strengthened ,and reduce the birth rate of the thalassemia children to improve the quality of the population .

Objective To investigate the correlation between large artery atherosclerotic stroke and paraoxonase 1 (PON1) Q192R polymorphism.Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the PON1 Q192R polymorphism of 120 patients with large artery atherosclerotic stroke (case group) and 117 healthy subjects (control group).Results There was significant difference in the genotype distribution of PON1 Q192R (x2 =18.727,P＜0.001) and the allele frequency distribution (x2 =16.427,P ＜0.001) between the case group and the control group.Multivariate logistic regression analysis showed that RR genotype was an independent risk factor for large artery atherosclerotic stroke (odds ratio 1.377,95％ confidence interval 1.032-2.185; P =0.026).Conclusions The allelic gene mutation rate of PON1 Q192R in patients with large artery atherosclerotic stroke was significantly higher than that in the healthy population.RR genotype is an independent risk factor for large artery atherosclerotic stroke.