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背景:良性家族性婴儿惊厥(benignfamilialinfantileconvulsion,BFIC)疾病基因定位研究主要在西方国家进行,尽管现在已经报道了3个染色体位点与疾病基因连锁,但直到目前疾病基因仍未被找到和证实。要最终克隆BFIC疾病基因首先要对BFIC疾病基因进行定位和位点异质性研究。目的:研究BFIC家系的疾病基因与BFIC位点的连锁关系并检测是否存在疾病基因位点异质性。设计:以5个BFIC家系成员的基因型为研究对象,回顾性观察对比研究。单位:一所大学的细胞生物学与医学遗传学研究室。对象:本研究于2001-07月/2003-07在郑州大学医学院细胞生物学与医学遗传学教研室完成。共采集5个BFIC家系(图1-5),分别来自河南省新乡、南阳、周口、鹤璧四地区,受试者共70例,其中BFIC患者28例,非BFIC患者42例。纳入标准:①符合国际抗癫痫联盟颁布的癫痫发作分类的标准确诊者;排除标准:脑电图、脑CT、磁共振检测结果有异常以及有中毒、脑外伤病史者。方法:应用聚合酶链反应(PCR)、变性聚丙烯酰胺凝胶电泳和银染技术得到家系成员的基因型。从BFIC家系成员外周血中抽提DNA,选择D19S245,D19S250,D16S3131,D16S3133,D2S399和D2S2330等6个基因短片段重复序列(STR)作为DNA标记,检测家系成员的基因型。将基因型信息输入计算机由LINKAGE软件包?
BACKGROUND: Gene localization studies of benign familial infantile convulsions (BFIC) have been performed mainly in Western countries. Although three chromosomal loci have been reported to be linked to disease genes, the disease genes have not been found and confirmed until now. In order to clone the BFIC disease gene, the BFIC disease gene should be firstly located and investigated for site heterogeneity. OBJECTIVE: To study the linkage between disease genes and BFIC loci in BFIC pedigrees and to detect the existence of disease loci heterogeneity. Design: The genotypes of five BFIC pedigree members were studied, and comparative studies were retrospectively reviewed. Unit: a university cell biology and medical genetics laboratory. PARTICIPANTS: This study was performed in the Department of Cell Biology and Medical Genetics, School of Medicine, Zhengzhou University from July 2001 to July 2003. A total of 5 BFIC pedigrees were collected (Fig. 1-5). They were from Xinxiang, Nanyang, Zhoukou and Hebi respectively in Henan Province. There were 70 subjects, including 28 BFIC patients and 42 non-BFIC patients. Inclusion criteria: ① in line with the International Epilepsy Union promulgated seizures classification of the standard diagnosed; Exclusion criteria: EEG, brain CT, abnormalities in magnetic resonance test results as well as poisoning, history of traumatic brain injury. Methods: Genotypes of pedigree members were obtained by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining. DNA was extracted from the peripheral blood of members of the BFIC family and six STR loci (D19S245, D19S250, D16S3131, D16S3133, D2S399 and D2S2330) were selected as DNA markers to detect the genotypes of the members of the pedigree. Enter genotype information into computer by LINKAGE package?