摘要
目的分析中国Leber遗传性视神经病变(LHON)患者是否存在新的原发突变位点。方法分别用聚合酶链反应(PCR)扩增、异源双链-单链构像多态性聚合酶链反应(HA-SSCP-PCR)、限制性片段长度多态性(RFLP)和DNA测序等方法,对260例已确诊不携带mtDNA11778A、3460A、14484C3种原发突变的可疑LHON患者进行新的原发突变位点15257、14482、14498、14568、14596、14495及14459的筛查,分析中国人种的原发突变频谱。结果在260例可疑LHON患者和100例正常人中发现8种线粒体DNA多态位点。其中T14488C、A14518G、A14617G是尚未报道过的多态位点(http://www.mitomap.org/)。但未发现15257、14482、14498、14568、14596、14495及14459等位点的突变。结论在中国人中初步排除15257A位点是原发突变的可能性。由于存在种族的差异,ND6基因中的14452～14601碱基对可能不是中国LHON患者的突变热区,中国患者可能存在其他的突变热区。
Objective To analyze the new primary mutation in Chinese people with Leber＇s hereditary optic neuropathy （LHON）. Methods Genomic DNA was collected from 260 suspected LHON patients and 100 normal healthy persons. The mhochondria DNA mutation at nucleotide position （NP） 15257 and the hot spot （14452-14601 bp） of ND6 gene which include the mutations at NP （14482, 14498, 14568, 14596, 14495, and 14459） were screened by using polymerase chain reaction （PCR）, heteroduplex-single strand conformation polymorphism （HA-SSCP） and restriction fragment length polymorphism （RFLP） analysis and sequencing. Primary mutation spectrum of Chinese race was analyzed. Results Eight kinds of polymorphism of mitochondria DNA were found in 260 suspected LHON patients and 100 normal healthy persons, including NP 14488C, 14518G, and 14617G which hadn＇t been reported （http..//www. mitomap, org/）. No mutation at NP 15257, 14482, 14498, 14568, 14596, 14495, and 14459 was found. Conclusion The NP 15257A may not be the primary mutation in Chinese. Because of the race difference, 14452-14601 hp in ND6 gene may not he the hot spot in Chinese patients with LHON, and other hot spots may exist.
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2006年第2期82-85,共4页
Chinese Journal of Ocular Fundus Diseases
基金
资助基金国家"863"计划项目(04AA104092)
