目的 探讨5-羟色胺转运体基因(5-HTT)第2内含子的一个可变数串联重复序列(Stin2.VNTR)和单胺氧化酶A(MAOA)基因14外显子上的一种限制性片段长度多态性(EcoRV-RFLP)与汉族男性反社会人格障碍(APD),尤其是具有高度冲动性APD的遗传易感性的关系.方法 (1)APD组:对南京地区某监狱男性服刑人员进行人格诊断问卷(PDQ-4+)调查,在PDQ得分为阳性的可疑人群中由临床医师以美国精神障碍诊断与统计手册第4版(DSM-Ⅳ)关于APD诊断标准进一步确诊,入组118例;全部进行Barratt冲动量表(BIS-11)评分,以冲动总分中位值为界,划分为高冲动APD组和低冲动APD组.(2)监狱对照组:经PDQ排除人格障碍的250名服刑人员作为监狱内对照.(3)正常对照组:同时期医院健康体检者300名设为正常对照.取所有人员血液标本提取DNA,应用聚合酶链反应(PCR)和限制性片段长度多态性方法,对等位基因频率和基因型频率进行对比分析.结果 (1)APD组与正常对照组比较,5-HTT-VNTR基因型多态、MAOA-EcoRV-RFLP多态差异无统计学意义(x2=2.819,P=0.244;x2=2.347,P=0.126).(2)高冲动APD组与正常对照组比较,5-HTT-VNTR基因型多态差异有统计学意义(x2=7.422,P=0.024),MAOA-EcoRV-RFLP的等位基因频率有统计学意义(x2=5.478,P=0.019).(3)2个位点的联合分析中,APD组和高冲动APD组分别与对照组比较,12/12/-多倍体型的差异均有统计学意义(x2=7.164,P=0.007;x2=9.590,P=0.002);12/10/+仅在高冲动APD组与正常对照组间差异有统计学意义(x2=5.378,P=0.020).结论 5-HTT基因第2内含子VNTR多态、MAOA基因EcoRV-RFLP多态与具有高冲动的APD关联,12/12/-多倍体型与中国汉族男性APD发病风险可能有关.%Objective To investigate whether the 5-HTT-VNTR, the EcoRV polymorphism of MAOA gene was associated with antisocial personality disorder (APD) in Han Chinese male criminal offenders. Method In a prison in Jiangsu, the male criminals were evaluated with the Personality Diagnostic Questionnaire 4, and the diagnosis of antisocial personality disorder was made based on the DSM-Ⅳ criteria. Altogether 118 criminal people with antisocial disorder were evaluated with the Barratt-11 scale, in which 60 cases of total score ≥ the median were as the high impulsion group. Another 250 male criminals without personality disorder and 300 healthy people were recruited as controls. The DNA fragments of 5-HTT-VNTR and MAOA-EcoRV were measured using PCR assay. Both allele frequencies and genotype frequencies among the groups were compared. Results ( 1 ) There were significant differences of alleles of the 5-HTT-VNTR and MAOA-EcoRV ( + ) frequency between 60 APD with high impulsiveness (12/12: 70.0%, 12/10:21.7%, 10/10: 8.3%, 71.7%) and normal controls ( 12/12: 84.7%, 12/10: 10.7%, 10/10: 4.7%,55.3%; x2 = 7.422, P = 0.024, x2 = 5.478, P = 0.019 ), while no significant differences between 118 APD ( 12/12:78.0%, 12/10: 14.4%, 10/10: 7.6%, 63.6% ) and normal controls ( x2 = 2.819, P = 0.244;x2 =2.347,P=0.126). (2)When two genetic locus were combined, the polyploidy of 12/12/- frequency was significantly increased in normal controls compared to 118 APD (x2 =7.164, P=0.007) and APD with high impulsiveness (x2 =9.590, P =0.002), respectively. There was significant difference of 12/12/+frequency only between APD with high impulsiveness and normal controls (x2 = 5.378, P = 0.020 ).Conclusion There may be an association between the 5-HTT-VNTR, MAOA-EcoRV polymorphisms and susceptibility to impulsiveness in male Han Chinese criminal offenders with antisocial personality disorder,with the polyploidy type of 12/12/- may play a role in the development of antisocial personality disorder.
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