CAJ | 학술논문

目的探讨胱硫醚-β-合成酶(CBS) 基因T833C、G919A多态性与精神分裂症的关系.方法采用聚合酶链式反应(PCR)和DNA测序技术,对93例精神分裂症患者(病例组)和102例正常对照者(对照组)的CBS基因多态性进行检测.结果 ⑴所有受检者均未发现CBS基因T833C、G919A多态性,但在下游8-9内含子33bp处检测到G→A突变;病例组见G/A杂合和A/A纯合,对照组仅见G/A杂合.⑵病例组与对照组在G→A突变的基因型分布上差异无显著性(P>0.05),但病例组A等位基因频率(8.07%)高于对照组(3.43%)(χ2=3.92,P=0.048,OR=2.47,95%CI=1.01～6.05).⑶各临床亚组与对照组在G→A突变的基因型分布上差异无显著性(均P>0.05),但阳性组和晚发组A等位基因频率(8.70%,8.93%)高于对照组(3.43%) (χ2=4.35,P=0.037,OR=2.68,95%CI=1.06～6.77;χ2=4.29,P=0.038,OR=2.76,95%CI=1.06～6.43).结论 CBS基因T833C、G919A突变很低,可能与精神分裂症无关;CBS基因8-9内含子33bp处G→A突变可能是晚发、阳性型精神分裂症的风险因子之一.
목적 탐토광류미-β-합성매(CBS) 기인T833C、G919A다태성여정신분렬증적관계.방법 채용취합매련식반응(PCR)화DNA측서기술,대93례정신분렬증환자(병례조)화102례정상대조자(대조조)적CBS기인다태성진행검측.결과 ⑴소유수검자균미발현CBS기인T833C、G919A다태성,단재하유8-9내함자33bp처검측도G→A돌변;병례조견G/A잡합화A/A순합,대조조부견G/A잡합.⑵병례조여대조조재G→A돌변적기인형분포상차이무현저성(P>0.05),단병례조A등위기인빈솔(8.07%)고우대조조(3.43%)(χ2=3.92,P=0.048,OR=2.47,95%CI=1.01～6.05).⑶각림상아조여대조조재G→A돌변적기인형분포상차이무현저성(균P>0.05),단양성조화만발조A등위기인빈솔(8.70%,8.93%)고우대조조(3.43%) (χ2=4.35,P=0.037,OR=2.68,95%CI=1.06～6.77;χ2=4.29,P=0.038,OR=2.76,95%CI=1.06～6.43).결론 CBS기인T833C、G919A돌변흔저,가능여정신분렬증무관;CBS기인8-9내함자33bp처G→A돌변가능시만발、양성형정신분렬증적풍험인자지일.
Objective To explore the relationship between cystathione-beta-synthase(CBS) gene T833C,G919A polymorphisms and schizophrenia. Methods The CBS gene polymorphism was detected by polymerase chain reaction and DNA sequencing technique in 93 patients with schizophrenia and 102 healthy people as normal control. Results ⑴ No CBS gene T833C ,G919A polymorphisms were found in all subjects,but mutation of G→A was detected at the 33th base in intron 8-9. Both heterozygote G/A and homozygote A/A were found in patient group,only heterozygote G/A was found in control group. ⑵ There was no significant difference of genotype distribution for mutation of G→A between patient group and control group(P>0.05). The frequency of A allele in patient group (8.07%)was higher than that in control group(3.43%) (χ2=3.92,P=0.048,OR=2.47,95%CI=1.01～6.05). ⑶ There was no significant difference of genotype distribution for mutation of G→A between clinic subgroups and control group(all P>0.05). The frequency of A allele in positive subgroup(8.70%) and later first-onset age subgroup(8.93%) were higher than that in control group(χ2=4.35,P=0.037,OR=2.68,95%CI=1.06～6.77; χ2=4.29,P=0.038,OR=2.76,95%CI=1.06～6.43). Conclusion The finding suggests that mutation of CBS gene T833C ,G919A is very low and it may be not correlated with schizophrenia. Mutation of G→A at the 33th base in intron 8-9 of CBS gene may be one of risk factors for schizophrenia with later first-onset age or positive symptom.