摘要
目的:检测中国一常染色体显性先天性静止性夜盲(ADCSNB)大家系相关基因的致病性突变位点及此病临床表型特征。方法:从该家系16名患者和14名正常成员的外周静脉血提取基因组DNA。根据已报道的与ADCSNB有关的3个基因的5个位点的杂合错义突变设计引物,利用聚合酶链反应扩增5个位点所在的外显子,扩增产物纯化后用MegaBACE1000全自动毛细管测序仪测序。利用罗兰视觉电生理检查仪进行全视野视网膜电流图检查。结果:患者暗适应a波正常,b波明显降低。16名患者和14名正常成员在已报道的5个位点均未检测到突变。结论:该家系符合ADCSNB特征,但分子缺陷未涉及这5个位点的点突变或缺失,这显示ADCSNB可能具有遗传异质性。
<Abstrcat> Objective: To detect gene mutations associated with autosomal dominant congenital stationary night blindness(ADCSNB) in a large Chinese family. Methods: Genomic DNAs were extracted from peripheral blood samples of 16 affected and 14 unaffected family members.According to 5 missense mutations in 3 genes reported previously,4 pairs of primerswere designed and corresponding exons containing the five mutation sites were amplified by polymerase chain reaction.Amplified products were purified andsequenced by MegaBACE1000 capillary array electrophoresis DNA sequencer.Full field electroretinogram (ERG,ISCEV) of patients was recorded and analyzed by Roland Consult System. Results: Dark-adapted ERG showed a-wave wasnormal,but (b-wave) of the patients was markedly decreased.None of the fivemissense mutations were detected in 16 affected and 14 unaffected family members. Conclusion: The molecular pathogenesis of ADCSNB in this family does not involve point mutations or deletions of these five sites,which indicates the heterogeneity of ADCSNB.
出处
《浙江大学学报（医学版）》
CAS
CSCD
2005年第3期255-259,共5页
Journal of Zhejiang University(Medical Sciences)
关键词
夜盲/先天性
夜盲/遗传学
染色体异常
点突变
聚合酶链反应
Night blindness/congen
Night blindness/genet
Chromosome abnormalities
Point mutation
Polymerase chain reaction
