title: [Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases].
abstract: OBJECTIVE
  To explore the significance of gene mutations of cystathionine beta-synthase (CBS844ins68), methionine synthase (MS A2756G) and methylenetetrahydrofolate reductase (MTHFR C677T) in ischemic cardiovascular and cerebrovascular diseases.
  
  
  METHODS
  The genotypes of CBS 844ins68, MS A2756G and MTHFR C677T were determined by PCR-based assay in 102 patients with brain infarction, 73 with myocardial infarction and 100 healthy controls.
  
  
  RESULTS
  The prevalences of CBS 844ins68 and MS A2756G in the cohort studied were somewhat lower than that in western Caucasian populations. There were no significant differences in the frequencies of CBS 844ins 68, MS A2756G and MTHFR C677T mutations between the patient the and control groups. However, the heterozygous form of CBS 844ins 68 tended to be more prevalent in the controls than in the patients.
  
  
  CONCLUSIONS
  Gene mutations as CBS 844ins 68, MS A2756G and MTHFR C677T may not be independent risk factors for ischemic cardiovascular and cerebrovascular disease in Southern Chinese Han population. The prevalences of CBS 844ins 68 and MS A2756G may vary with different ethnic groups or geographic regions.
authors.affiliation: Molecular Hematology Laboratory, The Second Affiliated Hospital of Xiangya Medical College, Central South University, Changsha 410011, China.
authors.forename: C
authors.initials: C
authors.lastname: Dai
authors.forename: G
authors.initials: G
authors.lastname: Zhang
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D002545:Brain Ischemia / Q000235:genetics*; D002318:Cardiovascular Diseases / Q000235:genetics; D002561:Cerebrovascular Disorders / Q000235:genetics; D003541:Cystathionine beta-Synthase / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D017202:Myocardial Ischemia / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics / Q000378:metabolism
chemical_list: D006710:Homocysteine; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase