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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。
OBJECTIVE: To detect the pathogenic mutation sites and the clinical phenotypic characteristics of the related genes in an autosomal dominant silent night blindness (ADCSNB) in China. METHODS: Genomic DNA was extracted from peripheral venous blood of 16 patients in this pedigree and 14 normal controls. Primers were designed according to the reported missense mutations at 5 sites of 3 genes related to ADCSNB. The 5 exons were amplified by polymerase chain reaction (PCR). The amplified product was purified with MegaBACE1000 Automatic capillary sequencer sequencing. Whole-field retinal current pattern was examined by Roland visual electrophysiology. Results: Patients with dark adaptation a normal wave, b wave decreased significantly. Sixteen patients and 14 normal controls did not detect any mutations in the 5 reported sites. Conclusion: The pedigree is consistent with the features of ADCSNB, but the molecular defects do not involve the point mutation or deletion of the five loci. This indicates that ADCSNB may have genetic heterogeneity.