常染色体显性遗传视网膜色素变性视紫红质基因突变的检测  

SEARCH FOR MUTATION OF THE RHODOPSIN GENE IN PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA

作　　者：费一坚[1] 罗成仁[1] 黄永志[1] 

机构地区：[1]华西医科大学附属第一医院眼科

出　　处：《中华医学遗传学杂志》1992年第6期321-323,T021,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：应用聚合酶链反应(PCR)技术对15个常染色体显性遗传型视网膜色素变性(ADRP)家系25名患者的视紫红质基因第5外显子片段进行扩增,结合限制性片段长度多态性(RFLP)分析,发现同一家系的8名患者存在视紫红质基因第347位密码子的点突变,且该家系中ADRP基因与该突变共同分离,而其余14个家系的22名患者和12名正常人均未显示该点突变。提示ADRP存在分子水平的遗传异质性,位于8号染色体长臂的视紫红质基因的点突变可能是导致某些类型的ADRP的病因。视紫红质基因突变的检测对于探讨视网膜色素变性(RP)发病机理、RP患者早期诊断及基因携带者的检测均有理论意义和应用价值。DNA fragments containing the coding sequence in exon 5 of the rhodopsin gene were amplified by PCR in 25 patients from 15 unrelated Chinese families with autosomal dominant retinitis pigmentosa (ADRP). Analysis of these DNA fragments by RFLP showed that the codon 347 mutation at exon 5 of the rhodopsin gone presents heterozygously in 3 patients of a single family in which the transmission of this mutation correlates with the inheritance of the RP trait. However, this point mutation was not found among12 normal unrelated subjects and the other 22 patients. It is indicated that genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by mutations of the rhodopsin gone. The frequency of the codon 347 mutation of the rhodopsin gene was estimated to be 6.7% in these Chinese ADRP families. Identification of the rhodopsin gene mutation in these ADRP families provides valuable information for rapid diagnosis of ADRP at the molecular level in China.

关 键 词：视网膜 色素变性 视紫红质基因 

分 类 号：R774.120.3[医药卫生—眼科]