摘要
目的 探讨Xp11区HSU9330 5基因座单体型、2 2q11～ 13区α2 肾上腺素能受体 (A2αR)基因和儿茶酚 氧 甲基转移酶 (COMT)基因多态性与精神分裂症的关联。方法 分别提取 5 9个中国汉族核心家系成员 (母 5 9名 ,父 5 6名 ,精神分裂症患者 5 9例 )的DNA ,采用基因扩增和限制性片段长度多态性技术 ,进行HSU9330 5基因座的单体型研究 ;选择其中 5 6个父母均存活的家系进行A2αR基因和COMT基因多态性传递不平衡检验 (TDT)的研究 ,并应用复等位基因TDT、基于单体型的单体型相对风险率 (HHRR)检验等。结果 (1)Xp11区HSU9330 5基因座经MspⅠ及DraⅡ酶切后产生四种单体型 :D1M1,D1M2 ,D2 M1,D2 M2 。父母组以单体型D2 M1频率最高 (5 7 7% ) ;患者组也以D2 M1传递率最高 (5 9 0 % ) ,其次为D1M2 (2 8 9% ) ,D2 M2 传递率最低 (1 2 % )。 (2 )经复等位基因TDT分析 ,精神分裂症与Xp11区HSU9330 5基因座相关联 (χ2 =9 2 8,v =3,P <0 0 5 ) ;与A2αR基因 (χ2 =1 0 9,v=1,P >0 0 5 )和COMT基因 (χ2 =0 31,v =1,P >0 0 5 )未见关联。 (3)经HHRR检验 ,A2αR基因 (χ2 =1 2 1,v=1,P >0 0 5 )和COMT基因 (χ2 =0 37,v=1,P >0 0 5 )与精神分裂症亦未见关联。结论 精神分裂症与HSU9330 5基因座相关联 。
Objective To explore the relationship between the haplotype of HSU93305 locus on XP11 and polymorphism of genes for α 2 adrenergic receptors (A 2α R), catechol o methyltrausferase (COMT) on 22 q11 13 and schizophrenia Methods Genomic DNA was isolated from 59 core pedigree members of Chinese Han nationality (including 59 schizophrenic probands, 59 mothers, and 56 fathers) The transmission disequilibrium test (TDT) was conducted among 56 pedigrees with biological parents alive for analyzing haplotype of HSU93305 and polymorphism of genes for A 2α R and COMT The genotypes were determined with polymerase chain reaction and restriction fragment length polymorphism The haplotype based haplotype relative risk (HHRR) and test of Hardy Weiberg equilibrium were employed Results (1) There were four haplotypes of HUS93305 locus on XP11: D 1M 1, D 1M 2, D 2M 1, and D 2M 2 in both patient and parent group, and the D 2M 1 was the most common In probands, D 2M 1 had the highest transmission rate, which accounted for 59 0%, and the second D 1M 2 (28 9%), the lowest D 2M 2 (1 2%) (2)The TDT of multiple alleles showed an association between schizophrenia and HSU93305 locus on XP11 (χ 2=9 28, v =3, P <0 05), but not A 2α R gene (χ 2=1 09, v =1, P >0 05) and COMT gene (χ 2=0 31, v =1, P >0 05) (3)The HHRR test did not show association between schizophrenia and A 2α R gene (χ 2=1 21, v =1, P >0 05) or COMT gene (χ 2=0 37, v =1, P >0 05) yet Conclusions It is suggested that the susceptible gene for schizophrenia may be at XP11, and there is no association between polymorphism of genes for A 2α R and COMT and schizophrenia
出处
《中华精神科杂志》
CAS
CSCD
北大核心
2002年第3期135-138,共4页
Chinese Journal of Psychiatry
基金
天津市卫生局科研基金资助项目 (津卫 97KY 3 7)
