Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR
文献类型：期刊论文
| 作者 | Bi R1,2; Zhang AM1,2; Yu DD1; Chen DN1; Yao YG[*]1 |
| 刊名 | CLINICA CHIMICA ACTA
 |
| 出版日期 | 2010 |
| 卷号 | 411期号:21-22页码:1671-1674 |
| 关键词 | mtDNA LHON Primary mutation MAS-PCR General population |
| 通讯作者 | ygyaozh@gmail.com |
| 合作状况 | 其它 |
| 英文摘要 | Background Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases, which is mainly caused by three mitochondrial DNA (mtDNA) mutations (m.3460G>A, m 11778G>A and m.14484T>C). Incomplete penetrance suggests that there might be asymptomatic carriers in general populations These asymptomatic carriers are clinically important as they are potential future patients and the female carriers could transfer the pathogenic mutations to their offspring. Thus, screening the three LHON primary mutations in general populations is important for genetic counseling Methods We optimized a multiplex allele-specific PCR method based on previous studies, and the sensitivity was evaluated The three LHON primary mutations were screened by using this MAS-PCR method in 1571 subjects from general Chinese populations that are without symptoms or family history of optic neuropathy Results The optimized MAS-PCR approach can detect a heteroplasmy level at 5%, 5%, and 20% for m.3460G>A. m 11778G>A and m 14484T>C. respectively. None of the three WON primary mutations was detected in the 1571 subjects Conclusion The three LHON primary mutations are rare in general Chinese populations The optimized MAS-PCR assay provides an easier, faster and more cost-effective method for detection of the three LHON primary mutations, making it practical for clinical diagnosis |
| 收录类别 | SCI |
| 资助信息 | This study was supported by Yunnan Province (云南省高端人才计划 2009CI119), Chinese Academy of Sciences and the National Science Foundation of China (30925021). |
| 语种 | 英语 |
| 公开日期 | 2010-10-28 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6334]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 |
| 作者单位 | 1.Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China 2.Graduate School of the Chinese Academy of Sciences, Beijing 100039, China |
| 推荐引用方式 GB/T 7714 | Bi R,Zhang AM,Yu DD,et al. Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR[J]. CLINICA CHIMICA ACTA,2010,411(21-22):1671-1674. |
| APA | Bi R,Zhang AM,Yu DD,Chen DN,&Yao YG[*].(2010).Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR.CLINICA CHIMICA ACTA,411(21-22),1671-1674. |
| MLA | Bi R,et al."Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR".CLINICA CHIMICA ACTA 411.21-22(2010):1671-1674. |
入库方式： OAI收割
来源：昆明动物研究所
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