精神分裂症患者及一级亲属染色体脆性位点的研究  

Astudyofchromosomalfragilesitesinpatientswithschizophreniaandtheirfirst┐degreerelatives

作　　者：洪美玲[1,2] 张珉 赵先碧 李忠武[1,2] 李庆 刘爱昌 王秉义[1,2] 刘慧 刘刚 

机构地区：[1]解放军大连医学高等专科学校病理教研室 [2]解放军第二一五医院精神科

出　　处：《中华精神科杂志》1996年第4期199-201,共3页Chinese Journal of Psychiatry

摘　　要：在发现精神分裂症（ＳＰ）患者常染色体某些脆性位点（ＦＳ）表达率明显增高基础上，旨在观察ＳＰ患者的一级亲属ＦＳ表达情况，并研究ＳＰ与ＦＳ间的连锁关系。采集１１个ＳＰ家系的１１例患者和３０例一级亲属的末梢血作淋巴细胞体外ＴＣ１９９培养，检测其染色体ＦＳ，并以３０名无血缘关系的正常健康人为对照组。应用家系Ｌｏｄｓ法进行ＳＰ与ＦＳ连锁分析。结果显示，患者和亲属两组的ＦＳ表达率均明显高于对照组（Ｐ＜０．０１），１ｐ３１、３ｐ２１、４ｑ３１、６ｐ２１和１７ｑ１２的表达率在前两组中均无显著性差异（Ｐ＞０．０５），且两组均有相同ＦＳ表达。家系连锁分析显示，最大Ｌｏｄｓ值１ｐ为０．０１８０，３ｐ为０．０８２０，６ｐ为－０．００６０，１７ｑ为０．７０１２。提示ＦＳ在ＳＰ患者和一级亲属中似乎是一种共存现象，ＳＰ与ＦＳ之间尚无显著连锁存在，但均不否定连锁关系，有待扩大家系样本，对同类标记Ｌｏｄｓ值继续累加。Onthegroundthattheexpressionfrequenciesofthechromosomalfragilesites(FS)wereincreasedsignificantlyinthepatientswithschizophrenia(SP).WemadeastudyoftheexpressionstateofFSintheirfirst-degreerelativesandthelinkagerelationbetweenSPandFS.ThechromosomalFSwereexaminedintheperipheralbloodlymphocytesculturedinTC199mediumfrom11SPpatients,30theirfirst-degreerelativesand30unrelatednormalcontrols.ThefamilyLodsmethodwasusedtostudythelinkagerelationbetweenSPandFS.TheresultsshowedthattheexpressionfrequenciesofFSobservedinthepatientsandtheirrelativesweresignificantlyhigherthanthoseofthecontrolsubjects(P<0.01).TheFSaremainlylp31,3p21,4q31,6p21and17q12.Intheexpressionfrequenciesthereisnosignificantdiferencebetweenthepatientsandtheirrelatives(P>0.05),andthepatientsandtheirrelativeshavetheexpressionofthesameFS.LinkageanalysisoffamilyshowedthatthemaximumvaluesofLods:lpwas0.0180,3p0.0820,6p-0.0060,and17q0.7012.ThisstudyindicatedthattheseFSappearedtocoexistinSPandtheirrelatives.TheresultsshowednosignificantlinkagerelationbetweenSPandFS,buttheydonotnegateitssxistence.Thisstudyremainedtoincreasethesamplesoffamily,andtoaccumulatethevaluesofLodsofthesamesianinordertodrawaconclusion.Therefore,thisstudymightprovidesomebeneficialdataforfurtherstudiesofthelinkagerelationbetweenSPandFS.

关 键 词：精神分裂症 染色体脆弱位点 病理 

分 类 号：R749.302[医药卫生—神经病学与精神病学]