摘要
目的:探讨视紫红质基因在视网膜色素变性疾病中的作用。方法:通过聚合酶链反应(PCR)对4个显性视网膜色素变性家系先证者视紫红质基因的5个外显子进行扩增,扩增产物进行直接测序。结果:视紫红质基因全部编码序列在4个家系先证者中均未发现碱基改变,TJE14及TJE15先证者第1外显子上游非编码区中第70个碱基出现A/G套峰,在TJE15先证者第5外显子第1185碱基出现A/C套峰;而在TJE16先证者中第1外显子上游非编码区中第45个碱基为纯合子GG,第70个碱基为纯合子AA;TJE17先证者第1外显子上游非编码区中第45个碱基为纯合子AA,第70个碱基为纯合子GG。结论:视紫红质基因在中国人群中突变率不如欧美人高,它可能不是导致中国人显性视网膜色素变性的主要致病基因。
Objective： To study the effects of rhodopsin （RHO） gene in autosomal dominant retinitis pigmentosa （adRP）. Methods： Five exons of RHO gene in probands of four adRP Chinese families were amplified by PCR, and the products were directly sequenced. Results： No base mutations was found in RHO gene in 4 probands of these families. A/G peaks were found in the 70th base of the first exon upstream untranslated region in probands of TJE14 and TJE15, and A/C peak was found in the 1 185th base of the fifth exon in probands of TJE 15. The 45th base was homozygote GG and the 70th base was homozygote AA of the first exon upstream untranslated region in probands of TJE16, the 45th base was homozygote AA and the 70th base was homozygote GG of the first exon upstream untranslated region in probands of TJE 17. Conclusion： The ratio of RHO mutation in Chinese with adRP is lower than that in American and European, and RHO might not be the main pathogenesis gene of adRP in Chinese.
出处
《天津医药》
CAS
北大核心
2005年第10期617-620,共4页
Tianjin Medical Journal
基金
国家自然科学基金资助项目(项目编号:30070805)
