Association between cystathionine-beta-synthase gene mutation and ischemic cerebrovascular disease in youths
- VernacularTitle:胱硫醚β-合成酶基因突变与青年缺血性脑血管疾病的相关性
- Author:
Guangxian NAN
;
Liping WANG
;
Mingji CUI
- Publication Type:Journal Article
- From:
Chinese Journal of Tissue Engineering Research
2006;10(10):170-172
- CountryChina
- Language:Chinese
-
Abstract:
BACKGROUND: Homocysteine is associated with the attack of cerebral infarction, and cystathionine-beta-synthase (CBS) is a key enzyme of the metabolism of homocysteine, but it is still not clear whether its gene mutation is the potential candidate genic factor of cerebral infarction.OBJECTIVE: To observe the correlation of CBS base mutation at T833C and G919 sites with the attack of ischemic stroke in youths from the angle of genic mutation.DESIGN: A patient-control analysis.SETTING: Department of Neurology, China-Japan Friendship Hospital of Jilin University.PARTICIPANTS: Patient group (n=100): Young inpatients with cerebral infarction ≤ 45 years old in the China-Japan Friendship Hospital of Jilin University between April 2003 and December 2004, admitted within 2 days after attack. Control group (n=100): Normal young physical examinees in this hospital at the same period.METHODS: The levels of fasting and loaded homocysteine in plasma were detected with high performance liquid chromatography (HPLC), CBS genes at T833C and G919A sites with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system in all the subjects.RESULTS: All of the 200 subjects entered the analysis of results. ① Detection of CBS genes at T833C and G919A sites: The distribution of genotype, frequency of homozygote and that of allele had no significant differences between the patient group and control group (P ＞ 0.05). ② Concentration of homocysteine in plasma: There were significant differences among the genotypes at G919A and T833C sites (P ＜ 0.001). The results of LSD-t test of the mutation at the two sites showed that there were significant differences between homozygote and heterozygote, homozygote and wild type,as well as C heterozygote and wild type (P ＜ 0.05).CONCLUSION: ① The CBS gene mutations at both T833C and G919A sites can lead to the obvious increase of the concentration of homocysteine in plasma. ② The CBS gene mutations at T833C and G919A sites had no direct association with the attack of cerebrovascular disease in youths.
