CAJ | 학술논문

目的探索定位双相障碍易感基因.方法采集7个双相障碍高发家系,共90例家系成员,患者27例.选择6个染色体区域中的30个微卫星标记初步扫描,初步扫描结果阳性的区域选取12个微卫星标记精细扫描.GENEHUNTER2.1软件行连锁分析.结果初步扫描D21S263、D21S1252和D22S423位点nonparametric logarithm of odds(NPL)值分别为1.64、1.41和1.40.精细扫描D21S262位点和D21S1920位点家系成员法和同胞对法计算NPL值分别为1.44、1.52、1.54和1.89.结论 21q22.11-13和22q13.1可能存在双相障碍的易感基因.
목적 탐색정위쌍상장애역감기인.방법 채집7개쌍상장애고발가계,공90례가계성원,환자27례.선택6개염색체구역중적30개미위성표기초보소묘,초보소묘결과양성적구역선취12개미위성표기정세소묘.GENEHUNTER2.1연건행련쇄분석.결과 초보소묘D21S263、D21S1252화D22S423위점nonparametric logarithm of odds(NPL)치분별위1.64、1.41화1.40.정세소묘D21S262위점화D21S1920위점가계성원법화동포대법계산NPL치분별위1.44、1.52、1.54화1.89.결론 21q22.11-13화22q13.1가능존재쌍상장애적역감기인.
Objective To explore the genetic susceptibility of bipolar disorder. Methods Seven multiplex bipolar disorder pedigrees were collected. Thirty microsatellite markers in 4p,4q, 12q, 13q,21q,22q were evaluated initially and 12 additional markers were genotyped for fine scan between a domain of about 20 cM in 21q22, which had got a suggestive linkage in step one. Linkage analyses were carried out by GENEHUNTER 2. 1 software. Results Evidence for linkage was found at D21S263, D21S1252 and D22S423 with NPL score of 1.64, 1.41 and 1.40. By fine scan and linkage analyses, we got NPL scores of 1.44, 1.52, 1.54 and 1.89 with score pairs and score all at D21S262 and D21S1920 respectively. Conclusions Loci in 21q22.11-13 and 22q13.1 may contribute to bipolar disorder susceptibility in this sample.